Variant report

Variant	rs12507269
Chromosome Location	chr4:151379427-151379428
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151379354..151381771-chr4:151385487..151387954,2	K562	blood:
2	chr4:151373073..151374619-chr4:151378113..151379713,2	K562	blood:
3	chr4:151379354..151382254-chr4:151385487..151387583,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10003085	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap]
rs10009219	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10017937	0.83[AMR][1000 genomes]
rs10021103	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10021676	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10027582	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10034965	0.83[AMR][1000 genomes]
rs10213297	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10471055	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11099767	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11099768	0.86[ASN][1000 genomes]
rs12511109	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12512965	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1504782	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28360888	0.88[ASN][1000 genomes]
rs28373637	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28446645	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28460294	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28490505	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28501240	0.83[AMR][1000 genomes]
rs28533051	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28539520	0.83[AMR][1000 genomes]
rs28540258	0.83[AMR][1000 genomes]
rs28580527	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28639783	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28643547	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28802622	0.83[AMR][1000 genomes]
rs3922785	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4260528	0.83[AMR][1000 genomes]
rs4419456	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61520262	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6813081	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6832909	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843987	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6847441	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6849364	0.83[AMR][1000 genomes]
rs6856287	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6858706	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes]
rs72955894	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957852	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72957869	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72957890	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7655913	0.83[AMR][1000 genomes]
rs7659148	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7664323	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7674390	0.86[EUR][1000 genomes]
rs7699621	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7699721	0.82[ASN][1000 genomes]
rs9307878	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9761873	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9968356	0.86[EUR][1000 genomes];0.83[ASN][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	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	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
3	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
4	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
5	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151333000-151408000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:151344800-151387200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151345000-151389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:151356200-151386800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:151356600-151411200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:151356800-151391200	Weak transcription	Fetal Intestine Large	intestine
7	chr4:151358400-151398600	Weak transcription	GM12878-XiMat	blood
8	chr4:151364600-151387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:151364600-151414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:151372200-151402200	Weak transcription	Fetal Intestine Small	intestine
11	chr4:151373600-151398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:151374400-151381200	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:151374400-151419000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:151375800-151383800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:151376000-151387800	Weak transcription	Brain Angular Gyrus	brain
16	chr4:151376200-151409600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:151376800-151403800	Weak transcription	Ovary	ovary
18	chr4:151377000-151403400	Weak transcription	Aorta	Aorta
19	chr4:151377000-151412400	Weak transcription	Liver	Liver
20	chr4:151377200-151384000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:151377600-151387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:151377600-151387200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:151377600-151400000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:151377800-151382200	Weak transcription	Primary B cells from cord blood	blood
25	chr4:151377800-151387200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:151378000-151386000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:151378000-151386200	Weak transcription	Primary T cells from cord blood	blood
28	chr4:151378000-151387600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:151378000-151398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:151378200-151385800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:151378200-151386600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:151378200-151387200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:151378800-151379600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:151379400-151387200	Weak transcription	Primary B cells from peripheral blood	blood

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