Variant report

Variant	rs6968713
Chromosome Location	chr7:102579193-102579194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102574165..102576650-chr7:102576864..102579530,2	K562	blood:
2	chr7:102574165..102576596-chr7:102576864..102579639,2	K562	blood:

Variant related genes	Relation type
ENSG00000161040	Chromatin interaction
ENSG00000128606	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10257543	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10267275	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs10273725	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10435335	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10487283	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs10499952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1100044	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11543736	0.91[EUR][1000 genomes]
rs11970869	0.95[EUR][1000 genomes]
rs11972019	0.83[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs11972644	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs11973870	0.92[EUR][1000 genomes]
rs11978670	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs11978768	0.82[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes]
rs11978799	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11980643	0.88[EUR][1000 genomes]
rs11981980	0.85[CEU][hapmap]
rs11983456	0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs11983521	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs12056296	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12532495	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533386	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12540384	0.95[EUR][1000 genomes]
rs12666764	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs12667218	0.92[EUR][1000 genomes]
rs12668434	0.85[CEU][hapmap]
rs12669668	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs12671803	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13242493	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17136090	0.85[CEU][hapmap]
rs17136137	0.95[EUR][1000 genomes]
rs2009503	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2159022	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2190673	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2228686	0.87[EUR][1000 genomes]
rs2411056	0.91[EUR][1000 genomes]
rs2411059	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35479298	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779029	0.92[EUR][1000 genomes]
rs41501847	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4296965	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56894117	0.92[EUR][1000 genomes]
rs56921864	0.95[EUR][1000 genomes]
rs57350619	0.92[EUR][1000 genomes]
rs57368671	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57545514	0.95[EUR][1000 genomes]
rs57616389	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57776797	0.92[EUR][1000 genomes]
rs58191643	0.95[EUR][1000 genomes]
rs58680618	0.86[EUR][1000 genomes]
rs58814323	0.80[EUR][1000 genomes]
rs59278165	0.95[EUR][1000 genomes]
rs60524601	0.92[EUR][1000 genomes]
rs60599650	0.92[EUR][1000 genomes]
rs61679881	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6465877	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs6465878	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6465879	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes]
rs6465882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6465885	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6942855	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs6945369	0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs6946773	0.85[CEU][hapmap]
rs6947403	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6949150	0.84[CEU][hapmap];0.81[CHB][hapmap];0.95[EUR][1000 genomes]
rs6951288	0.96[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs6953980	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6956781	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6957434	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6957771	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6967389	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs6975451	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs6976005	0.92[EUR][1000 genomes]
rs6977145	0.95[EUR][1000 genomes]
rs73406284	0.95[EUR][1000 genomes]
rs73406302	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73408204	0.95[EUR][1000 genomes]
rs73408250	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7779145	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7779618	0.84[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7780405	0.92[CEU][hapmap]
rs7780981	0.85[CEU][hapmap]
rs7796335	0.95[EUR][1000 genomes]
rs7804322	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs847646	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs847647	1.00[CEU][hapmap]
rs847652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847656	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs847658	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs865865	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs955992	0.92[CEU][hapmap]
rs9690210	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102571400-102579600	Genic enhancers	HSMM	muscle
2	chr7:102571600-102581800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:102571800-102579400	Weak transcription	Left Ventricle	heart
4	chr7:102573400-102579400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:102573400-102579800	Genic enhancers	Fetal Lung	lung
6	chr7:102573800-102591400	Weak transcription	Pancreas	Pancrea
7	chr7:102574000-102592200	Weak transcription	Fetal Intestine Large	intestine
8	chr7:102574200-102579600	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:102574600-102594400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:102574800-102579800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:102575000-102584400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:102575000-102586000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:102575000-102586800	Weak transcription	NHLF	lung
14	chr7:102575400-102587000	Strong transcription	NH-A	brain
15	chr7:102575600-102579400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:102575600-102581600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:102575600-102583000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:102575600-102585200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:102575600-102586800	Weak transcription	Osteobl	bone
20	chr7:102576000-102579800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:102576800-102579400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:102576800-102582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:102576800-102582400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:102576800-102582400	Weak transcription	NHDF-Ad	bronchial
25	chr7:102576800-102584000	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:102576800-102584200	Weak transcription	Aorta	Aorta
27	chr7:102577000-102579400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:102577000-102579400	Weak transcription	Ovary	ovary
29	chr7:102577000-102579400	Weak transcription	K562	blood
30	chr7:102577000-102582400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:102577000-102582800	Weak transcription	Right Atrium	heart
32	chr7:102577200-102582400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:102577400-102579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:102577400-102582400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:102577600-102579400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:102577600-102587400	Weak transcription	Fetal Kidney	kidney
37	chr7:102577800-102586400	Weak transcription	Fetal Brain Male	brain
38	chr7:102578000-102579400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:102578200-102579400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:102578200-102579800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:102578200-102579800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr7:102578400-102579200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr7:102578400-102579200	Enhancers	HUVEC	blood vessel
44	chr7:102578400-102579400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:102578400-102579800	Enhancers	Adipose Nuclei	Adipose
46	chr7:102578400-102584000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:102578600-102579400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:102578600-102579600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr7:102578600-102579800	Enhancers	HSMMtube	muscle
50	chr7:102578600-102581000	Weak transcription	H1 Cell Line	embryonic stem cell

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