Variant report

Variant	rs28376268
Chromosome Location	chr7:56020718-56020719
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
2	chr7:56018384..56020889-chr7:56129856..56132224,2	K562	blood:
3	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
4	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
5	chr7:56018165..56022272-chr7:56129856..56132253,4	K562	blood:

Variant related genes	Relation type
ENSG00000129103	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000146731	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10229177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10253771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10480961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28469879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28583345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28796354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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 target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers 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 target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv981772	chr7:56009678-56020897	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56018600-56020800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:56019000-56020800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr7:56019000-56020800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:56019200-56020800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:56019200-56020800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:56019200-56020800	Active TSS	GM12878-XiMat	blood
7	chr7:56019200-56020800	Active TSS	Hela-S3	cervix
8	chr7:56019200-56020800	Active TSS	Osteobl	bone
9	chr7:56019200-56021000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:56019400-56020800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:56019800-56020800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:56020200-56020800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:56020200-56020800	Active TSS	HepG2	liver
14	chr7:56020200-56021000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:56020200-56021000	Enhancers	Fetal Heart	heart
16	chr7:56020200-56021200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr7:56020200-56021200	Enhancers	Fetal Brain Male	brain
18	chr7:56020200-56021400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:56020200-56026000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:56020200-56031200	Weak transcription	Brain Substantia Nigra	brain
21	chr7:56020200-56031400	Weak transcription	Small Intestine	intestine
22	chr7:56020200-56031600	Weak transcription	Aorta	Aorta
23	chr7:56020200-56031800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:56020400-56020800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:56020400-56020800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:56020400-56020800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:56020400-56020800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:56020400-56020800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:56020400-56020800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:56020400-56020800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:56020400-56020800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr7:56020400-56020800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:56020400-56020800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:56020400-56020800	Active TSS	Fetal Brain Female	brain
35	chr7:56020400-56020800	Weak transcription	Fetal Intestine Small	intestine
36	chr7:56020400-56020800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:56020400-56020800	Weak transcription	A549	lung
38	chr7:56020400-56020800	Genic enhancers	Dnd41	blood
39	chr7:56020400-56020800	Weak transcription	NHEK	skin
40	chr7:56020400-56021000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:56020400-56021000	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:56020400-56021000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr7:56020400-56021000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:56020400-56021000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:56020400-56021000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr7:56020400-56021000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:56020400-56021000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:56020400-56021000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:56020400-56021000	Active TSS	Brain Germinal Matrix	brain
50	chr7:56020400-56021000	Weak transcription	Brain Hippocampus Middle	brain

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