Variant report

Variant	rs6944960
Chromosome Location	chr7:7736419-7736420
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7726921..7729917-chr7:7734737..7737606,4	K562	blood:
2	chr7:7731035..7732628-chr7:7734421..7736986,2	MCF-7	breast:
3	chr7:7726990..7730835-chr7:7733488..7736848,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1012996	0.89[ASN][1000 genomes]
rs1012997	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs10227168	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10227236	0.86[ASN][1000 genomes]
rs10240471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10246966	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10257718	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10277292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10278708	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12702634	0.81[ASN][1000 genomes]
rs13221027	0.89[ASN][1000 genomes]
rs13231388	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13242539	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1544456	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs1557997	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1557998	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs17481971	0.89[CHB][hapmap]
rs17482047	0.89[CHB][hapmap]
rs2107999	0.87[ASN][1000 genomes]
rs2108000	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28912673	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs35375940	0.86[ASN][1000 genomes]
rs4313075	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62432601	0.86[ASN][1000 genomes]
rs6947203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6966464	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs717841	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7781054	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7783714	0.83[CEU][hapmap]
rs7800702	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7800719	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7800853	0.81[ASN][1000 genomes]
rs7804775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9648616	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
17	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr7:7706800-7743200	Weak transcription	Gastric	stomach
2	chr7:7708600-7738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:7716000-7738400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:7717800-7749000	Weak transcription	Fetal Intestine Small	intestine
5	chr7:7721600-7748800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:7721800-7737000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:7722000-7750600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:7722600-7744400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:7722600-7745600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:7722800-7738600	Weak transcription	GM12878-XiMat	blood
11	chr7:7722800-7742400	Weak transcription	Pancreas	Pancrea
12	chr7:7726800-7737600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:7726800-7745800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:7727600-7741000	Weak transcription	Brain Germinal Matrix	brain
15	chr7:7727800-7748800	Weak transcription	Small Intestine	intestine
16	chr7:7728000-7736600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:7729000-7738200	Weak transcription	Thymus	Thymus
18	chr7:7729000-7738600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:7729000-7738600	Weak transcription	Right Atrium	heart
20	chr7:7729000-7743400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:7732000-7738600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:7732600-7736800	Weak transcription	Primary T cells from cord blood	blood
23	chr7:7732600-7738400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:7733600-7737200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:7734400-7736800	Enhancers	Brain Anterior Caudate	brain
26	chr7:7734600-7740000	Enhancers	Fetal Heart	heart
27	chr7:7734800-7737000	Enhancers	Colon Smooth Muscle	Colon
28	chr7:7734800-7737400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:7734800-7737800	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:7735200-7736600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:7735200-7736800	Enhancers	Fetal Muscle Leg	muscle
32	chr7:7735200-7737000	Enhancers	Liver	Liver
33	chr7:7735200-7737000	Enhancers	NHLF	lung
34	chr7:7735200-7737400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:7735400-7738600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:7735400-7738600	Weak transcription	Fetal Stomach	stomach
37	chr7:7735400-7739600	Weak transcription	Right Ventricle	heart
38	chr7:7735400-7742400	Weak transcription	Ovary	ovary
39	chr7:7735400-7746600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:7735400-7746800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:7735600-7736800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:7735600-7738600	Weak transcription	Adipose Nuclei	Adipose
43	chr7:7735600-7739200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:7735600-7739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:7735600-7744400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:7735800-7737600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:7735800-7738400	Weak transcription	Left Ventricle	heart
48	chr7:7736000-7736600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:7736000-7736800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:7736000-7736800	Enhancers	Stomach Mucosa	stomach

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