Variant report

Variant	rs4510661
Chromosome Location	chr6:38165266-38165267
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38163651..38165832-chr6:38213347..38216236,2	K562	blood:
2	chr6:38158880..38161557-chr6:38164282..38166120,2	K562	blood:
3	chr6:38165196..38166057-chr6:38246936..38247494,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10807190	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10807191	0.90[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs10807192	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10947714	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs10947716	0.82[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs11754110	0.90[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs11756830	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs12196879	0.82[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs12197001	0.91[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs12198616	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs13205068	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs17678747	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17678833	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2143403	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2235710	0.85[ASN][1000 genomes]
rs2235711	0.81[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs3800358	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs3823431	0.86[ASN][1000 genomes]
rs4314486	0.85[ASN][1000 genomes]
rs6458044	0.82[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6938410	0.81[ASN][1000 genomes]
rs742537	0.90[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs742538	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7742915	0.81[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs7756835	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs926565	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380721	0.85[ASN][1000 genomes]
rs9462400	0.84[ASN][1000 genomes]
rs9462404	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs9462405	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9462406	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9462409	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470811	0.81[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs9470813	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs9470816	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs9470818	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs9470819	0.84[ASN][1000 genomes]
rs9470820	0.84[ASN][1000 genomes]
rs9470822	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs9470823	0.91[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs9470824	0.89[ASN][1000 genomes]
rs9470825	0.81[CHB][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv522522	chr6:38131442-38207636	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv885819	chr6:38148770-38190439	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv520053	chr6:38154941-38207636	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:38131800-38167800	Weak transcription	Right Atrium	heart
3	chr6:38138600-38169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:38141600-38166200	Weak transcription	Left Ventricle	heart
5	chr6:38141800-38168000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:38143600-38177200	Weak transcription	Ovary	ovary
7	chr6:38147400-38180400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:38152000-38166600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:38155600-38177200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:38157800-38166200	Weak transcription	Psoas Muscle	Psoas
11	chr6:38160000-38166000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:38160200-38177600	Weak transcription	Esophagus	oesophagus
13	chr6:38160400-38177000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:38160400-38177600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:38160600-38177000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:38160600-38179600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:38160800-38201400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:38161200-38167400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:38161600-38175200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:38162000-38179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:38162600-38167600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:38162600-38167800	Weak transcription	Lung	lung
23	chr6:38162600-38180000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:38162800-38169000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:38163000-38176200	Weak transcription	Fetal Stomach	stomach
26	chr6:38163800-38166400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:38164000-38165600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:38164200-38165800	Strong transcription	Primary T cells from cord blood	blood
29	chr6:38164400-38166800	Strong transcription	Primary B cells from cord blood	blood
30	chr6:38164800-38165400	Enhancers	NHDF-Ad	bronchial
31	chr6:38165200-38165600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:38165200-38165800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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