Variant report

Variant	rs11976654
Chromosome Location	chr7:5698323-5698324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5696126..5698767-chr7:5718167..5720079,2	MCF-7	breast:
2	chr7:5697885..5699964-chr7:5702405..5705157,2	K562	blood:
3	chr7:5567802..5570642-chr7:5696876..5699142,2	MCF-7	breast:
4	chr7:5697758..5700180-chr7:5700493..5702713,2	MCF-7	breast:
5	chr7:5697529..5700496-chr7:5700687..5702223,2	K562	blood:
6	chr7:5697370..5699882-chr7:5703729..5706961,3	MCF-7	breast:
7	chr7:5691115..5694271-chr7:5695445..5698769,3	MCF-7	breast:
8	chr7:5668201..5671136-chr7:5696894..5699870,2	K562	blood:

Variant related genes	Relation type
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10247769	1.00[AMR][1000 genomes]
rs10254311	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10265842	1.00[AMR][1000 genomes]
rs10276016	0.82[AFR][1000 genomes]
rs10276198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11556570	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28418908	0.93[AFR][1000 genomes]
rs28446539	0.93[AFR][1000 genomes]
rs28679698	1.00[AMR][1000 genomes]
rs57806146	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60073378	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6975359	1.00[AMR][1000 genomes]
rs73334490	1.00[AMR][1000 genomes]
rs73334491	1.00[AMR][1000 genomes]
rs73334493	1.00[AMR][1000 genomes]
rs73338077	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338095	1.00[AMR][1000 genomes]
rs73338096	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
7	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
8	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
9	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
10	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
11	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
12	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
15	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
2	chr7:5677000-5701400	Weak transcription	Fetal Brain Male	brain
3	chr7:5677200-5707200	Weak transcription	Stomach Mucosa	stomach
4	chr7:5677400-5706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:5679200-5706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:5679400-5701600	Weak transcription	Fetal Heart	heart
7	chr7:5683600-5710400	Weak transcription	Colonic Mucosa	Colon
8	chr7:5689800-5704000	Weak transcription	Fetal Brain Female	brain
9	chr7:5690000-5701400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:5690200-5699000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:5690200-5701400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:5690200-5704000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:5690200-5706000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:5690400-5701400	Weak transcription	NHDF-Ad	bronchial
15	chr7:5690400-5702400	Weak transcription	Psoas Muscle	Psoas
16	chr7:5690600-5701000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:5690600-5704200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:5690600-5704200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:5690800-5701000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:5690800-5704000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:5691000-5701600	Weak transcription	Right Ventricle	heart
22	chr7:5691000-5712000	Weak transcription	Fetal Kidney	kidney
23	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
24	chr7:5691800-5701600	Weak transcription	Fetal Lung	lung
25	chr7:5692000-5701600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:5692200-5700200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:5692200-5701000	Weak transcription	HUVEC	blood vessel
28	chr7:5692200-5701200	Weak transcription	Aorta	Aorta
29	chr7:5692200-5701600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:5692200-5701600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:5692200-5701600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:5692200-5704000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:5692400-5700800	Weak transcription	Ovary	ovary
34	chr7:5692400-5701000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:5692400-5701200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:5692400-5701200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr7:5692400-5701200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:5692400-5701600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:5692400-5701600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:5692600-5717400	Weak transcription	Hela-S3	cervix
41	chr7:5692800-5698600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:5692800-5701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:5692800-5701600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:5692800-5701600	Weak transcription	K562	blood
45	chr7:5692800-5702000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:5692800-5702200	Weak transcription	Lung	lung
47	chr7:5693000-5700400	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:5693000-5700800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:5693000-5700800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:5693800-5700800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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