Variant report

Variant	rs57608899
Chromosome Location	chr7:6785376-6785377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11971358	1.00[ASN][1000 genomes]
rs11974014	1.00[ASN][1000 genomes]
rs11975963	1.00[ASN][1000 genomes]
rs11979742	1.00[ASN][1000 genomes]
rs55667244	1.00[ASN][1000 genomes]
rs59436190	1.00[ASN][1000 genomes]
rs59660422	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60111824	1.00[ASN][1000 genomes]
rs6950034	1.00[ASN][1000 genomes]
rs6950197	1.00[ASN][1000 genomes]
rs73333108	1.00[ASN][1000 genomes]
rs73333121	1.00[ASN][1000 genomes]
rs7804416	1.00[ASN][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	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
6	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
7	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv887450	chr7:6779270-6919214	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv887451	chr7:6779270-6985071	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	esv33385	chr7:6784757-6840337	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6770800-6786400	Weak transcription	Fetal Brain Male	brain
2	chr7:6771000-6786200	Weak transcription	HUVEC	blood vessel
3	chr7:6771000-6786400	Weak transcription	Primary B cells from cord blood	blood
4	chr7:6771200-6792400	Weak transcription	NHEK	skin
5	chr7:6772800-6787000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:6773000-6786400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:6773400-6788200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:6777200-6786600	Weak transcription	HSMMtube	muscle
9	chr7:6777400-6786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:6777400-6786400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:6777400-6786600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:6777400-6787000	Weak transcription	Fetal Kidney	kidney
13	chr7:6777400-6788200	Weak transcription	Brain Substantia Nigra	brain
14	chr7:6777400-6790600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:6777400-6791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:6777400-6792000	Weak transcription	Colonic Mucosa	Colon
17	chr7:6777400-6792200	Weak transcription	Fetal Brain Female	brain
18	chr7:6777400-6793000	Weak transcription	Left Ventricle	heart
19	chr7:6777400-6793000	Weak transcription	Ovary	ovary
20	chr7:6777400-6793000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:6777400-6793800	Weak transcription	Brain Anterior Caudate	brain
22	chr7:6777600-6786400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:6777600-6786400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:6777600-6786400	Weak transcription	NHDF-Ad	bronchial
25	chr7:6777600-6792200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:6777600-6792200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:6777600-6792200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:6777600-6793000	Weak transcription	Gastric	stomach
29	chr7:6777600-6793000	Weak transcription	Spleen	Spleen
30	chr7:6777600-6793800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:6777600-6793800	Weak transcription	Brain Germinal Matrix	brain
32	chr7:6777800-6791400	Weak transcription	Esophagus	oesophagus
33	chr7:6777800-6793000	Weak transcription	Fetal Intestine Large	intestine
34	chr7:6779200-6788200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:6780200-6787800	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:6780200-6792200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:6780200-6793000	Weak transcription	Lung	lung
38	chr7:6780400-6785800	Weak transcription	A549	lung
39	chr7:6780400-6786200	Weak transcription	GM12878-XiMat	blood
40	chr7:6780400-6786400	Weak transcription	Fetal Thymus	thymus
41	chr7:6780400-6786800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:6780400-6787000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:6780400-6788400	Weak transcription	Dnd41	blood
44	chr7:6780400-6790600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:6780400-6790600	Weak transcription	Pancreas	Pancrea
46	chr7:6780400-6792800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:6780400-6792800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:6780400-6793000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:6780400-6793000	Weak transcription	Adipose Nuclei	Adipose
50	chr7:6780400-6793400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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