Variant report

Variant	rs6977673
Chromosome Location	chr7:7241136-7241137
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1008896	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10215143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242378	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244392	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10252611	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253466	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10253709	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260052	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260457	1.00[ASN][1000 genomes]
rs10273490	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275169	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280795	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282249	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760845	0.92[ASN][1000 genomes]
rs11773799	0.92[ASN][1000 genomes]
rs11981957	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226799	0.83[ASN][1000 genomes]
rs13228554	0.91[ASN][1000 genomes]
rs13234672	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242769	0.82[ASN][1000 genomes]
rs13245879	0.82[ASN][1000 genomes]
rs17164679	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165258	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17165285	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28803004	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28883357	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34137418	0.82[ASN][1000 genomes]
rs34287623	0.81[ASN][1000 genomes]
rs34466774	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34534187	0.83[ASN][1000 genomes]
rs35084224	0.83[ASN][1000 genomes]
rs35234968	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937955	0.81[ASN][1000 genomes]
rs35949736	0.81[ASN][1000 genomes]
rs56278796	0.91[ASN][1000 genomes]
rs61048998	0.88[ASN][1000 genomes]
rs6942455	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6945013	0.88[ASN][1000 genomes]
rs6951671	1.00[ASN][1000 genomes]
rs71533354	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533355	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533359	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533362	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71533363	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71533364	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' 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 miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	42 gene(s)	inside rSNPs	diseases
9	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	42 gene(s)	inside rSNPs	diseases
11	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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	54 gene(s)	inside rSNPs	diseases
14	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats 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 target site	33 gene(s)	inside rSNPs	diseases
15	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	84 gene(s)	inside rSNPs	diseases
16	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
18	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers 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 target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7223400-7241400	Weak transcription	Pancreas	Pancrea
2	chr7:7223800-7279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:7225000-7243200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:7225200-7241200	Weak transcription	Hela-S3	cervix
5	chr7:7228000-7241200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:7230200-7246600	Weak transcription	Osteobl	bone
7	chr7:7230400-7241800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:7231400-7241200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:7231400-7248400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:7231600-7243000	Weak transcription	HSMM	muscle
11	chr7:7240000-7245000	Enhancers	Dnd41	blood
12	chr7:7240600-7242000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:7240800-7241200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:7240800-7241200	Enhancers	Primary B cells from cord blood	blood
15	chr7:7240800-7241200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:7240800-7241200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:7240800-7241200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr7:7240800-7241400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:7240800-7241600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:7240800-7241600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:7240800-7241600	Enhancers	Lung	lung
22	chr7:7240800-7241800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:7240800-7241800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:7240800-7241800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr7:7240800-7242000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:7240800-7242000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:7240800-7242000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:7240800-7242000	Enhancers	Esophagus	oesophagus
29	chr7:7240800-7242000	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr7:7240800-7242000	Enhancers	Left Ventricle	heart
31	chr7:7240800-7242000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr7:7240800-7242200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:7240800-7242200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:7240800-7242200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:7240800-7242200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:7240800-7242200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr7:7240800-7242200	Genic enhancers	HepG2	liver
38	chr7:7240800-7242400	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr7:7240800-7246400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:7241000-7241200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr7:7241000-7241200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:7241000-7241200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:7241000-7241200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr7:7241000-7241200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:7241000-7241200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr7:7241000-7241200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr7:7241000-7241200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr7:7241000-7241200	Enhancers	Adipose Nuclei	Adipose
49	chr7:7241000-7241200	Enhancers	Colonic Mucosa	Colon
50	chr7:7241000-7241400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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