Variant report

Variant	rs639605
Chromosome Location	chr7:129136683-129136684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129132630..129134641-chr7:129135721..129138192,2	K562	blood:
2	chr7:129131412..129134130-chr7:129134441..129137221,2	K562	blood:
3	chr7:129135442..129139497-chr7:129141151..129144723,4	K562	blood:
4	chr7:129136587..129138615-chr7:129140823..129143361,2	MCF-7	breast:
5	chr7:129135609..129138819-chr7:129140737..129143488,3	MCF-7	breast:
6	chr7:129128173..129130689-chr7:129136182..129137829,2	K562	blood:

Variant related genes	Relation type
ENSG00000240204	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10224011	0.82[CHB][hapmap]
rs11768964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771549	0.85[CHB][hapmap]
rs1272593	0.93[EUR][1000 genomes]
rs2402951	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs2598183	0.85[CHB][hapmap]
rs35842118	0.85[AFR][1000 genomes]
rs55832716	0.82[EUR][1000 genomes]
rs581829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs587499	0.85[CHB][hapmap];0.86[YRI][hapmap]
rs610591	0.82[CHB][hapmap];1.00[ASN][1000 genomes]
rs613068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs613169	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs632505	0.95[EUR][1000 genomes]
rs655239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656981	0.98[EUR][1000 genomes]
rs657664	1.00[CHB][hapmap]
rs66516303	0.91[ASN][1000 genomes]
rs666499	0.93[EUR][1000 genomes]
rs676947	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]
rs690872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs690903	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs691303	0.84[CHB][hapmap]
rs691325	0.85[CHB][hapmap];0.82[YRI][hapmap]
rs691332	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs691476	0.82[CHB][hapmap]
rs692132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692248	0.93[EUR][1000 genomes]
rs692507	0.86[EUR][1000 genomes]
rs692686	0.93[EUR][1000 genomes]
rs692695	0.93[EUR][1000 genomes]
rs6969620	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs712692	0.93[EUR][1000 genomes]
rs712693	0.93[EUR][1000 genomes]
rs7787531	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
2	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
4	chr7:129124000-129137200	Weak transcription	Esophagus	oesophagus
5	chr7:129129400-129141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:129129600-129141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:129133600-129141600	Weak transcription	Primary T cells from cord blood	blood
8	chr7:129134000-129141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:129134400-129139600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:129134400-129141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:129135400-129139800	Weak transcription	GM12878-XiMat	blood
12	chr7:129136000-129137000	Weak transcription	HepG2	liver
13	chr7:129136200-129137400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:129136200-129141400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:129136200-129141600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:129136400-129137800	Enhancers	Placenta	Placenta
17	chr7:129136600-129138200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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