Variant report

Variant	rs57817879
Chromosome Location	chr5:180220261-180220262
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:180217957..180220948-chr5:180429295..180431970,2	K562	blood:
2	chr5:180219008..180221127-chr5:180221660..180224233,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12163951	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4700985	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62405458	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62407790	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs646806	0.89[ASN][1000 genomes]
rs936712	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
2	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
6	nsv533204	chr5:180008319-180273638	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
7	nsv1015152	chr5:180014800-180567614	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
8	nsv537987	chr5:180014800-180567614	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	nsv1034993	chr5:180059323-180686563	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases
10	nsv534263	chr5:180063182-180696806	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	166 gene(s)	inside rSNPs	diseases
11	nsv1033330	chr5:180063241-180256969	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv537988	chr5:180063241-180256969	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1029282	chr5:180069992-180251755	Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	nsv1025669	chr5:180069992-180686563	Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases
15	nsv1026991	chr5:180077614-180229093	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	esv2757149	chr5:180079970-180245224	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	esv2759399	chr5:180079970-180281476	Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
18	esv2758033	chr5:180087198-180281476	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
19	nsv1024943	chr5:180108841-180226865	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv1030587	chr5:180119301-180229093	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv537993	chr5:180119301-180686563	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
22	nsv1028106	chr5:180120010-180228163	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	esv2755731	chr5:180136233-180226673	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv432822	chr5:180136233-180226673	Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv1026978	chr5:180137823-180686563	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	157 gene(s)	inside rSNPs	diseases
26	nsv949443	chr5:180144688-180503368	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
27	nsv1032677	chr5:180151997-180686563	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	157 gene(s)	inside rSNPs	diseases
28	nsv1016991	chr5:180152407-180256970	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
29	nsv537994	chr5:180152407-180256970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
30	nsv462587	chr5:180176005-180226673	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
31	nsv600678	chr5:180176005-180226673	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
32	nsv469692	chr5:180185452-180360834	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
33	nsv482702	chr5:180185452-180360834	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
34	nsv1022107	chr5:180203044-180686563	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
35	nsv1033854	chr5:180208441-180686563	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
36	nsv537995	chr5:180208441-180686563	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
37	nsv1033472	chr5:180208501-180575682	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
38	nsv537996	chr5:180208501-180575682	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
39	nsv469788	chr5:180210102-180403232	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
40	nsv482337	chr5:180210102-180403232	Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
41	nsv1018788	chr5:180216969-180686563	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
42	nsv1024379	chr5:180217029-180686563	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
43	nsv537997	chr5:180217029-180686563	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180212400-180225400	Strong transcription	Thymus	Thymus
2	chr5:180212800-180228600	Weak transcription	Fetal Brain Male	brain
3	chr5:180214000-180221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:180214400-180220800	Strong transcription	Fetal Intestine Small	intestine
5	chr5:180214400-180222600	Weak transcription	Right Atrium	heart
6	chr5:180214400-180222800	Weak transcription	Stomach Mucosa	stomach
7	chr5:180214400-180223000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:180214400-180224400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:180214600-180221000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:180214600-180223000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:180214600-180223400	Strong transcription	Fetal Thymus	thymus
12	chr5:180214600-180224600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:180214600-180227000	Weak transcription	Fetal Kidney	kidney
14	chr5:180214800-180220400	Genic enhancers	Adipose Nuclei	Adipose
15	chr5:180214800-180220600	Strong transcription	Brain Germinal Matrix	brain
16	chr5:180214800-180220600	Strong transcription	Dnd41	blood
17	chr5:180214800-180220800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:180214800-180222000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr5:180214800-180226400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:180215000-180220400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:180215000-180220600	Strong transcription	Primary T cells from cord blood	blood
22	chr5:180215000-180220600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:180215000-180220800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:180215000-180223600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:180215200-180222400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr5:180215200-180222800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:180215200-180223000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:180215200-180224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:180215400-180221000	Strong transcription	Osteobl	bone
30	chr5:180215400-180224600	Weak transcription	Fetal Heart	heart
31	chr5:180215400-180227800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:180215600-180220600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:180215600-180220800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:180215600-180220800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:180215600-180222000	Strong transcription	NHLF	lung
36	chr5:180215600-180226400	Strong transcription	Fetal Stomach	stomach
37	chr5:180215800-180220400	Strong transcription	Fetal Brain Female	brain
38	chr5:180215800-180220600	Strong transcription	HMEC	breast
39	chr5:180216200-180220600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr5:180216200-180224000	Weak transcription	NHDF-Ad	bronchial
41	chr5:180216400-180220400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:180216400-180224200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:180216600-180220400	Strong transcription	Brain Cingulate Gyrus	brain
44	chr5:180216800-180220600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:180216800-180220600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr5:180216800-180223600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:180217000-180220400	Strong transcription	HepG2	liver
48	chr5:180217000-180220600	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr5:180217000-180220600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:180217000-180221000	Strong transcription	NH-A	brain

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