Variant report

Variant	rs691303
Chromosome Location	chr7:129084080-129084081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129016463..129019397-chr7:129082973..129085564,2	MCF-7	breast:
2	chr7:129078097..129081964-chr7:129082738..129085474,4	K562	blood:
3	chr7:129078918..129084090-chr7:129089689..129096186,10	K562	blood:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11768964	0.85[CHB][hapmap]
rs11771549	1.00[CHB][hapmap]
rs2598183	1.00[CHB][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581829	0.84[CHB][hapmap]
rs587499	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613068	0.84[CHB][hapmap]
rs639605	0.84[CHB][hapmap]
rs655239	0.84[CHB][hapmap]
rs657664	0.84[CHB][hapmap]
rs676947	0.84[CHB][hapmap]
rs690872	0.85[CHB][hapmap]
rs691183	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691325	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692132	0.85[CHB][hapmap]
rs692509	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129075200-129088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:129075200-129096000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:129075200-129100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:129075200-129108400	Weak transcription	Gastric	stomach
5	chr7:129075400-129085600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:129075400-129086000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:129075400-129093200	Weak transcription	Brain Angular Gyrus	brain
8	chr7:129075400-129102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:129075400-129105800	Weak transcription	Ovary	ovary
10	chr7:129075600-129087600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:129075800-129085400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:129075800-129087400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:129075800-129091800	Weak transcription	HepG2	liver
14	chr7:129076000-129088800	Weak transcription	Fetal Lung	lung
15	chr7:129076000-129095000	Weak transcription	Dnd41	blood
16	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:129076400-129085400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:129076400-129088000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:129078200-129085800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:129078600-129087800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:129078800-129086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:129079200-129090200	Weak transcription	HSMM	muscle
24	chr7:129079200-129095200	Weak transcription	NHLF	lung
25	chr7:129079600-129107200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:129079800-129106400	Weak transcription	NHDF-Ad	bronchial
27	chr7:129080000-129087200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:129080000-129091800	Weak transcription	Osteobl	bone
29	chr7:129080000-129094600	Weak transcription	Hela-S3	cervix
30	chr7:129080000-129104800	Weak transcription	A549	lung
31	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
32	chr7:129080200-129084400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:129080400-129084800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:129080400-129094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:129080600-129084400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:129080600-129084400	Weak transcription	NHEK	skin
37	chr7:129080600-129101800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:129082000-129085600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:129082000-129091400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:129082600-129087600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:129082600-129108400	Weak transcription	Thymus	Thymus
42	chr7:129083000-129084400	Enhancers	Left Ventricle	heart
43	chr7:129083000-129084400	Enhancers	Right Ventricle	heart
44	chr7:129083400-129086200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr7:129083400-129086400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:129083400-129088400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:129083400-129092400	Weak transcription	HMEC	breast
48	chr7:129083600-129085400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:129083600-129086800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:129083600-129087200	Weak transcription	Psoas Muscle	Psoas

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