Variant report

Variant	rs6966464
Chromosome Location	chr7:7730682-7730683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7726990..7730835-chr7:7733488..7736848,3	K562	blood:
2	chr7:7679919..7682368-chr7:7729698..7732128,2	K562	blood:

Variant related genes	Relation type
ENSG00000219545	Chromatin interaction
ENSG00000106399	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1012996	0.90[ASN][1000 genomes]
rs1012997	0.83[ASN][1000 genomes]
rs10227168	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227236	0.87[ASN][1000 genomes]
rs10240471	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246966	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257718	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10277292	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278708	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12111719	0.80[ASN][1000 genomes]
rs12702634	0.83[ASN][1000 genomes]
rs13221027	0.90[ASN][1000 genomes]
rs13231388	0.84[ASN][1000 genomes]
rs13242539	0.87[ASN][1000 genomes]
rs1544456	0.83[ASN][1000 genomes]
rs1557997	0.90[ASN][1000 genomes]
rs1557998	0.90[ASN][1000 genomes]
rs2107999	0.89[ASN][1000 genomes]
rs2108000	0.90[ASN][1000 genomes]
rs28912673	0.84[ASN][1000 genomes]
rs35375940	0.87[ASN][1000 genomes]
rs4313075	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62432601	0.87[ASN][1000 genomes]
rs6944960	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6947203	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717841	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7781054	0.90[ASN][1000 genomes]
rs7800702	0.83[ASN][1000 genomes]
rs7800719	0.90[ASN][1000 genomes]
rs7800853	0.83[ASN][1000 genomes]
rs7804775	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9648616	0.87[ASN][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	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
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv606045	chr7:7704889-7755491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7706800-7743200	Weak transcription	Gastric	stomach
2	chr7:7708600-7738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:7715800-7736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:7716000-7733400	Weak transcription	Esophagus	oesophagus
5	chr7:7716000-7735200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:7716000-7738400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:7717800-7749000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:7718000-7731400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:7721200-7734800	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:7721400-7733000	Weak transcription	Osteobl	bone
11	chr7:7721600-7731800	Weak transcription	A549	lung
12	chr7:7721600-7733400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:7721600-7748800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:7721800-7734400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:7721800-7737000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:7722000-7750600	Weak transcription	Primary B cells from cord blood	blood
17	chr7:7722600-7744400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:7722600-7745600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:7722800-7733600	Weak transcription	Hela-S3	cervix
20	chr7:7722800-7738600	Weak transcription	GM12878-XiMat	blood
21	chr7:7722800-7742400	Weak transcription	Pancreas	Pancrea
22	chr7:7723000-7733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:7726800-7731600	Weak transcription	Primary T cells from cord blood	blood
24	chr7:7726800-7737600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:7726800-7745800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:7727000-7734800	Weak transcription	Brain Substantia Nigra	brain
27	chr7:7727200-7734400	Weak transcription	Brain Anterior Caudate	brain
28	chr7:7727200-7734800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:7727600-7741000	Weak transcription	Brain Germinal Matrix	brain
30	chr7:7727800-7730800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr7:7727800-7735200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:7727800-7748800	Weak transcription	Small Intestine	intestine
33	chr7:7728000-7731400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:7728000-7736600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:7728200-7733000	Weak transcription	HUVEC	blood vessel
36	chr7:7728800-7733200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:7728800-7733200	Weak transcription	NHEK	skin
38	chr7:7729000-7731600	Weak transcription	Aorta	Aorta
39	chr7:7729000-7734600	Weak transcription	Fetal Heart	heart
40	chr7:7729000-7736200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:7729000-7736200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:7729000-7736200	Weak transcription	HSMM	muscle
43	chr7:7729000-7738200	Weak transcription	Thymus	Thymus
44	chr7:7729000-7738600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:7729000-7738600	Weak transcription	Right Atrium	heart
46	chr7:7729000-7743400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:7729200-7735200	Weak transcription	Left Ventricle	heart
48	chr7:7729400-7732800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:7729600-7734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:7729800-7735200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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