Variant report

Variant	rs6535732
Chromosome Location	chr4:151269913-151269914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151235625..151237717-chr4:151269533..151271331,2	K562	blood:
2	chr4:151251315..151253563-chr4:151269052..151271081,2	K562	blood:
3	chr4:151269841..151272760-chr4:151278468..151280411,2	K562	blood:
4	chr4:151264691..151267587-chr4:151269891..151271961,2	K562	blood:
5	chr4:151267008..151271652-chr4:151273922..151277181,4	K562	blood:

Variant related genes	Relation type
ENSG00000198589	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10003215	0.80[AMR][1000 genomes]
rs10004618	0.80[AMR][1000 genomes]
rs10007367	0.82[AMR][1000 genomes]
rs10007538	0.80[AMR][1000 genomes]
rs10010611	0.82[AMR][1000 genomes]
rs10010954	0.87[GIH][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs10018151	0.80[AMR][1000 genomes]
rs10222778	0.82[AMR][1000 genomes]
rs10471054	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10520063	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1080194	0.80[AMR][1000 genomes]
rs12331959	0.82[AMR][1000 genomes]
rs13132429	0.85[AMR][1000 genomes]
rs13136928	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13145548	0.87[AFR][1000 genomes]
rs1459743	0.87[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs1507189	0.92[EUR][1000 genomes]
rs1546417	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17632215	0.82[CEU][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes]
rs17688556	0.82[AMR][1000 genomes]
rs17688594	0.82[AMR][1000 genomes]
rs1960919	0.89[EUR][1000 genomes]
rs2055688	0.90[AMR][1000 genomes]
rs2359928	0.80[AMR][1000 genomes]
rs2359941	0.89[EUR][1000 genomes]
rs28885675	0.80[AMR][1000 genomes]
rs4458434	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696085	0.82[AMR][1000 genomes]
rs4696254	0.88[EUR][1000 genomes]
rs56145629	0.82[AMR][1000 genomes]
rs57529227	0.81[AMR][1000 genomes]
rs59545554	0.82[AMR][1000 genomes]
rs6535729	0.88[AMR][1000 genomes]
rs6535730	0.98[GIH][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes]
rs6535731	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6535733	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6843645	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6844752	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7657948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7659675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7683815	0.94[EUR][1000 genomes]
rs7687678	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7691809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7692491	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs995227	0.89[EUR][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	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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
3	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv880259	chr4:151210761-151367745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv880260	chr4:151214038-151331191	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151205000-151272200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:151224200-151274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:151226800-151272400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:151236400-151272600	Weak transcription	Thymus	Thymus
5	chr4:151238200-151270200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:151242800-151273800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:151243000-151277000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:151243000-151277400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:151243000-151312000	Weak transcription	Primary B cells from cord blood	blood
10	chr4:151244200-151300600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:151245000-151270400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:151247200-151277000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:151247800-151285200	Weak transcription	GM12878-XiMat	blood
14	chr4:151259400-151277000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:151260000-151280000	Weak transcription	Fetal Stomach	stomach
16	chr4:151261000-151270400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:151262400-151271200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:151262400-151311200	Weak transcription	Primary T cells from cord blood	blood
19	chr4:151264400-151275400	Weak transcription	Gastric	stomach
20	chr4:151264400-151280400	Weak transcription	Small Intestine	intestine
21	chr4:151264600-151272000	Weak transcription	Adipose Nuclei	Adipose
22	chr4:151264800-151277000	Weak transcription	Liver	Liver
23	chr4:151265000-151272000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:151265000-151277000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:151265000-151277000	Weak transcription	Fetal Intestine Large	intestine
26	chr4:151265000-151278200	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:151265200-151273000	Weak transcription	K562	blood
28	chr4:151265200-151278200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:151266600-151272800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:151266800-151271200	Weak transcription	Fetal Brain Male	brain
31	chr4:151267000-151271000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:151268000-151272000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr4:151268000-151272000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:151268600-151270800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:151268800-151293800	Weak transcription	Fetal Intestine Small	intestine
36	chr4:151269000-151270200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:151269400-151270800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:151269600-151271800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:151269800-151270400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:151269800-151271200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:151269800-151271800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:151269800-151300600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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