Variant report

Variant	rs57817729
Chromosome Location	chr2:86336225-86336226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85829062..85831437-chr2:86335233..86337580,2	MCF-7	breast:
2	chr2:86335884..86339604-chr2:86348424..86352385,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168883	Chromatin interaction
ENSG00000132300	Chromatin interaction
ENSG00000168890	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10153790	0.84[AFR][1000 genomes]
rs10168635	0.85[AFR][1000 genomes]
rs10171798	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174095	0.94[AFR][1000 genomes]
rs10175597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10179466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10184159	1.00[AMR][1000 genomes]
rs10193712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12617717	0.99[AFR][1000 genomes]
rs12620810	0.90[AFR][1000 genomes]
rs13387316	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393659	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13394650	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402568	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403007	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403541	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404362	0.83[AFR][1000 genomes]
rs13413723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422309	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13430553	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17026886	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17026975	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027011	0.88[AFR][1000 genomes]
rs2018608	0.99[AFR][1000 genomes]
rs2241435	0.99[AFR][1000 genomes]
rs2303339	0.99[AFR][1000 genomes]
rs2303340	0.99[AFR][1000 genomes]
rs28483806	1.00[AMR][1000 genomes]
rs28617344	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631015	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3770066	0.90[AFR][1000 genomes]
rs56104203	0.99[AFR][1000 genomes]
rs57020255	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57062037	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60768598	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6748343	1.00[AMR][1000 genomes]
rs6755228	1.00[AMR][1000 genomes]
rs9309631	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9973880	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr2:86334000-86337600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:86334000-86337800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:86334000-86339200	Weak transcription	Lung	lung
4	chr2:86334200-86337800	Weak transcription	Aorta	Aorta
5	chr2:86334200-86342000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:86334400-86336600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:86334400-86337600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:86334400-86337600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:86334400-86337600	Weak transcription	Spleen	Spleen
10	chr2:86334400-86337800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:86334400-86338000	Weak transcription	Gastric	stomach
12	chr2:86334400-86339400	Weak transcription	Ovary	ovary
13	chr2:86334400-86340600	Weak transcription	Esophagus	oesophagus
14	chr2:86334400-86342000	Weak transcription	Pancreas	Pancrea
15	chr2:86334400-86362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:86334600-86336600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:86334600-86336600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:86334600-86336600	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:86334600-86337600	Weak transcription	Thymus	Thymus
20	chr2:86334600-86339600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:86334600-86339800	Weak transcription	Colonic Mucosa	Colon
22	chr2:86334800-86336600	Weak transcription	Fetal Brain Male	brain
23	chr2:86334800-86337600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:86334800-86337800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:86334800-86341400	Weak transcription	Small Intestine	intestine
26	chr2:86334800-86344400	Weak transcription	Stomach Mucosa	stomach
27	chr2:86335000-86336600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:86335000-86336600	Weak transcription	Primary B cells from cord blood	blood
29	chr2:86335000-86336600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:86335000-86336800	Weak transcription	NHDF-Ad	bronchial
31	chr2:86335000-86337600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:86335000-86337600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:86335000-86337600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:86335000-86337600	Weak transcription	Fetal Stomach	stomach
35	chr2:86335000-86337600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:86335000-86340400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:86335000-86342400	Weak transcription	Fetal Kidney	kidney
38	chr2:86335000-86379000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:86335000-86409000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:86335200-86336400	Weak transcription	Osteobl	bone
41	chr2:86335200-86336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:86335200-86336600	Weak transcription	Primary T cells from cord blood	blood
43	chr2:86335200-86336600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:86335200-86336600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:86335200-86336600	Weak transcription	NHLF	lung
46	chr2:86335200-86336800	Weak transcription	Fetal Lung	lung
47	chr2:86335200-86337000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:86335200-86337000	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:86335200-86337600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:86335200-86337600	Weak transcription	Brain Cingulate Gyrus	brain

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