Variant report

Variant	rs6957019
Chromosome Location	chr7:13960973-13960974
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17167656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2074671	0.86[ASN][1000 genomes]
rs2282874	0.99[ASN][1000 genomes]
rs2282875	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2282876	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs2282877	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2282882	0.95[ASN][1000 genomes]
rs3801090	0.95[ASN][1000 genomes]
rs58139784	0.89[ASN][1000 genomes]
rs59158053	0.92[ASN][1000 genomes]
rs59297103	0.92[ASN][1000 genomes]
rs59385207	0.89[ASN][1000 genomes]
rs59963849	0.89[ASN][1000 genomes]
rs60333912	0.92[ASN][1000 genomes]
rs60715239	0.92[ASN][1000 genomes]
rs6963903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6969848	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273365	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv887701	chr7:13955324-13988170	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:13945600-13974400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:13946200-13969200	Weak transcription	Liver	Liver
6	chr7:13949000-13969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:13949200-13969000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:13949200-13969200	Weak transcription	Left Ventricle	heart
9	chr7:13949400-13962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:13958600-13961400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:13959000-13961400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:13959400-13961200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:13959600-13961200	Enhancers	Fetal Intestine Large	intestine
14	chr7:13959600-13961400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:13959800-13961200	Enhancers	Fetal Intestine Small	intestine
16	chr7:13960000-13961000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:13960000-13961200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:13960200-13961400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:13960200-13962000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:13960200-13963400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:13960200-13971200	Weak transcription	Pancreas	Pancrea
22	chr7:13960200-13973000	Weak transcription	Aorta	Aorta
23	chr7:13960200-13983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:13960200-13987400	Weak transcription	K562	blood
25	chr7:13960200-13988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:13960400-13961000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:13960400-13961000	Enhancers	Fetal Lung	lung
28	chr7:13960400-13961000	Enhancers	HMEC	breast
29	chr7:13960400-13961000	Enhancers	Osteobl	bone
30	chr7:13960400-13961200	Enhancers	HUVEC	blood vessel
31	chr7:13960400-13961400	Enhancers	NHDF-Ad	bronchial
32	chr7:13960400-13964600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:13960400-13967200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:13960400-13967200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:13960400-13969000	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:13960400-13969200	Weak transcription	Fetal Stomach	stomach
37	chr7:13960400-13969200	Weak transcription	Right Ventricle	heart
38	chr7:13960400-13971200	Weak transcription	Fetal Brain Female	brain
39	chr7:13960400-13985200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:13960400-13989000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:13960600-13961200	Enhancers	NHLF	lung
42	chr7:13960600-13961400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:13960600-13961600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:13960600-13964400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:13960600-13966200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:13960600-13971000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:13960600-13973000	Weak transcription	Fetal Kidney	kidney
48	chr7:13960600-13975600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:13960600-13978400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:13960600-13979600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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