Variant report

Variant	rs7977683
Chromosome Location	chr12:58104477-58104478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58104338..58106820-chr12:58115614..58118088,2	MCF-7	breast:
2	chr12:58096280..58099117-chr12:58103405..58105701,2	K562	blood:
3	chr12:58095878..58097507-chr12:58102658..58104994,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11172270	0.86[ASN][1000 genomes]
rs12578587	0.91[ASN][1000 genomes]
rs28620262	0.86[ASN][1000 genomes]
rs7294447	0.91[ASN][1000 genomes]
rs7960103	1.00[ASN][1000 genomes]
rs7966948	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv1820402	chr12:58092554-58110211	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58089000-58109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:58089000-58110000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:58089200-58115400	Weak transcription	Fetal Heart	heart
4	chr12:58091000-58109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:58091000-58110200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:58091200-58109600	Weak transcription	Right Ventricle	heart
7	chr12:58091200-58116600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:58091400-58108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:58091400-58110200	Weak transcription	HUVEC	blood vessel
10	chr12:58091400-58111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:58092200-58106600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:58092600-58106400	Weak transcription	Aorta	Aorta
13	chr12:58092600-58106600	Weak transcription	Esophagus	oesophagus
14	chr12:58092600-58107600	Weak transcription	Pancreas	Pancrea
15	chr12:58092800-58109000	Weak transcription	HSMMtube	muscle
16	chr12:58092800-58109200	Weak transcription	HepG2	liver
17	chr12:58092800-58109400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:58093000-58106600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:58093400-58106400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:58093400-58109600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:58093400-58115400	Weak transcription	Fetal Brain Male	brain
22	chr12:58093600-58109000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:58094400-58106400	Weak transcription	Spleen	Spleen
24	chr12:58094400-58119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:58096600-58109200	Weak transcription	Brain Angular Gyrus	brain
26	chr12:58096800-58110200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:58097200-58116200	Weak transcription	Psoas Muscle	Psoas
28	chr12:58097400-58109200	Weak transcription	Brain Substantia Nigra	brain
29	chr12:58097400-58109800	Weak transcription	NHEK	skin
30	chr12:58097800-58108400	Weak transcription	NH-A	brain
31	chr12:58097800-58109200	Weak transcription	NHLF	lung
32	chr12:58097800-58109600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:58098000-58106400	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:58098000-58106600	Weak transcription	Dnd41	blood
35	chr12:58098000-58108200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:58098000-58109000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:58098000-58109400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:58098000-58109400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:58098000-58109400	Weak transcription	Stomach Mucosa	stomach
40	chr12:58098000-58110000	Weak transcription	NHDF-Ad	bronchial
41	chr12:58098000-58110400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:58098000-58110800	Weak transcription	HMEC	breast
43	chr12:58098000-58111800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:58098000-58112000	Weak transcription	A549	lung
45	chr12:58098000-58113000	Weak transcription	K562	blood
46	chr12:58098000-58115600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:58098000-58115800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:58098000-58116000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:58098200-58106400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:58098200-58109200	Weak transcription	Fetal Kidney	kidney

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