Variant report

Variant	rs676947
Chromosome Location	chr7:129125825-129125826
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	chr7:129117143..129119908-chr7:129125722..129128134,2	K562	blood:
2	chr7:129125678..129128261-chr7:129169143..129171738,2	K562	blood:

Variant related genes	Relation type
ENSG00000239919	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10224011	0.82[CHB][hapmap]
rs11768964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11771549	0.85[CHB][hapmap]
rs1272593	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2402951	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.88[LWK][hapmap];0.81[YRI][hapmap]
rs2598183	0.85[CHB][hapmap]
rs55832716	0.83[EUR][1000 genomes]
rs581829	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs587499	0.85[CHB][hapmap]
rs610591	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs613068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613169	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs639605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs655239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs656981	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs657664	1.00[CHB][hapmap]
rs666499	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs690872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs690903	0.80[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs691303	0.84[CHB][hapmap]
rs691325	0.85[CHB][hapmap]
rs691332	0.82[ASN][1000 genomes]
rs691476	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs692132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs692248	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs692507	0.84[EUR][1000 genomes]
rs692686	0.92[EUR][1000 genomes]
rs692695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6969620	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs712692	0.92[EUR][1000 genomes]
rs712693	0.92[EUR][1000 genomes]
rs7787531	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
2	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
3	chr7:129097600-129128600	Weak transcription	NH-A	brain
4	chr7:129101600-129128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
6	chr7:129103200-129129600	Weak transcription	Dnd41	blood
7	chr7:129103200-129135400	Weak transcription	HepG2	liver
8	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:129105400-129127400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:129108800-129128600	Weak transcription	Osteobl	bone
11	chr7:129111800-129128800	Weak transcription	HSMM	muscle
12	chr7:129112200-129129000	Weak transcription	NHDF-Ad	bronchial
13	chr7:129112200-129134600	Weak transcription	Fetal Heart	heart
14	chr7:129116400-129127400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:129117200-129126200	Strong transcription	K562	blood
16	chr7:129117600-129128000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:129120000-129129600	Weak transcription	Small Intestine	intestine
18	chr7:129120400-129126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:129120800-129130000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:129121000-129128000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:129121200-129129200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:129121200-129130800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:129121600-129129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:129121600-129129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:129121600-129132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:129121800-129129200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
28	chr7:129122400-129126000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:129122600-129126400	Strong transcription	Brain Anterior Caudate	brain
30	chr7:129123000-129126000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:129123000-129128200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:129123000-129128200	Weak transcription	Fetal Stomach	stomach
33	chr7:129124000-129137200	Weak transcription	Esophagus	oesophagus
34	chr7:129124400-129126000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:129124400-129126000	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:129124400-129128800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:129124400-129132000	Weak transcription	Psoas Muscle	Psoas
38	chr7:129124800-129128000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:129125400-129126000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:129125400-129126000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:129125400-129126000	Strong transcription	Left Ventricle	heart
42	chr7:129125400-129126200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:129125400-129126200	Strong transcription	NHEK	skin
44	chr7:129125600-129126600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:129125800-129126000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:129125800-129126400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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