Variant report

Variant	rs6974000
Chromosome Location	chr7:63776015-63776016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:63766214..63769574-chr7:63772661..63777448,6	K562	blood:
2	chr7:63766445..63770083-chr7:63772313..63776161,6	MCF-7	breast:
3	chr7:63767013..63769574-chr7:63775619..63777448,2	K562	blood:
4	chr7:63766171..63770866-chr7:63770990..63776052,17	MCF-7	breast:
5	chr7:63774618..63777610-chr7:63777696..63779466,2	K562	blood:
6	chr7:63770902..63772657-chr7:63773967..63776295,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234444	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10225654	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276721	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10277278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278641	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281760	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12333481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1985517	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs616074	0.92[EUR][1000 genomes]
rs623717	0.87[EUR][1000 genomes]
rs628142	0.97[EUR][1000 genomes]
rs630324	0.97[EUR][1000 genomes]
rs636404	0.97[EUR][1000 genomes]
rs639274	0.97[EUR][1000 genomes]
rs657683	0.97[EUR][1000 genomes]
rs664631	0.97[EUR][1000 genomes]
rs673182	0.90[EUR][1000 genomes]
rs6943206	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947294	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7783962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7789888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7794502	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9647727	0.89[EUR][1000 genomes]
rs9647804	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv464514	chr7:63383123-63847894	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv607304	chr7:63383123-63847894	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1016466	chr7:63438466-63969492	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv607305	chr7:63502629-63783386	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1019217	chr7:63520745-63802106	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv888264	chr7:63526245-63791269	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv1016645	chr7:63533811-63784883	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv1019909	chr7:63533811-63791269	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv1027639	chr7:63536201-63791269	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv607307	chr7:63537173-63783386	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv607308	chr7:63565953-63783386	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv522412	chr7:63599625-63889709	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv3440559	chr7:63610519-63904964	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	esv3491487	chr7:63610542-63904912	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	esv3491488	chr7:63610542-63904912	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	esv3422236	chr7:63610554-63907181	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv1018858	chr7:63610707-63903255	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv1032542	chr7:63617828-63898016	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv538891	chr7:63617828-63898016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases
24	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv888266	chr7:63695082-63791269	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
26	nsv888267	chr7:63704031-63781729	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
28	nsv607309	chr7:63726645-63783386	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
29	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
30	nsv464515	chr7:63744350-63783386	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	nsv607310	chr7:63744350-63783386	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
32	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
33	nsv888269	chr7:63758482-63866003	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
34	nsv482324	chr7:63764660-63934144	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
35	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63774000-63776200	Active TSS	Muscle Satellite Cultured Cells	--
2	chr7:63774000-63776200	Active TSS	Fetal Brain Female	brain
3	chr7:63774200-63776200	Active TSS	Brain Angular Gyrus	brain
4	chr7:63774200-63776200	Active TSS	Brain Anterior Caudate	brain
5	chr7:63774200-63776200	Active TSS	Ovary	ovary
6	chr7:63774200-63776600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:63774200-63776600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:63774600-63776200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr7:63775000-63776200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:63775200-63776200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr7:63775400-63776200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:63775400-63777000	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:63775400-63783800	Weak transcription	Liver	Liver
14	chr7:63775400-63790000	Weak transcription	Gastric	stomach
15	chr7:63775600-63776200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:63775600-63776200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:63775600-63776200	Active TSS	Brain Hippocampus Middle	brain
18	chr7:63775600-63776400	Weak transcription	Esophagus	oesophagus
19	chr7:63775600-63776400	Weak transcription	Lung	lung
20	chr7:63775600-63776600	Enhancers	Fetal Brain Male	brain
21	chr7:63775600-63777000	Enhancers	Primary T cells from cord blood	blood
22	chr7:63775600-63777000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr7:63775600-63777000	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr7:63775600-63779000	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:63775600-63779200	Weak transcription	Fetal Intestine Small	intestine
26	chr7:63775600-63783800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:63775600-63783800	Weak transcription	Colonic Mucosa	Colon
28	chr7:63775600-63783800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:63775600-63790000	Weak transcription	Left Ventricle	heart
30	chr7:63775600-63790200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:63775600-63790200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:63775600-63790200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:63775600-63790200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:63775600-63790200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:63775600-63790200	Weak transcription	Placenta	Placenta
36	chr7:63775600-63798800	Weak transcription	Right Ventricle	heart
37	chr7:63775800-63776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:63775800-63776200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:63775800-63776400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:63775800-63776400	Weak transcription	Right Atrium	heart
41	chr7:63775800-63776400	Weak transcription	Spleen	Spleen
42	chr7:63775800-63776600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:63775800-63776600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:63775800-63776600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr7:63775800-63777400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:63775800-63780400	Weak transcription	NHEK	skin
47	chr7:63775800-63784600	Weak transcription	Thymus	Thymus
48	chr7:63775800-63785400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:63775800-63785600	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:63775800-63790600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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