Variant report

Variant	rs12508149
Chromosome Location	chr4:151355602-151355603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151354749..151358319-chr4:151367984..151369817,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12498862	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12499470	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12500337	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12502486	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12503093	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506612	0.93[ASN][1000 genomes]
rs12507785	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12647325	0.84[ASN][1000 genomes]
rs17504359	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17504442	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17589028	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17589134	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17589349	0.84[ASN][1000 genomes]
rs1979920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036552	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2360071	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41386148	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56714695	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6535735	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6812262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817796	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827645	0.84[ASN][1000 genomes]
rs6831707	0.84[ASN][1000 genomes]
rs6833359	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6836012	0.84[ASN][1000 genomes]
rs6839345	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6849869	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6854612	0.85[ASN][1000 genomes]
rs7677055	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7681051	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7699001	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs952097	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs998069	0.84[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	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
4	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
5	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
6	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151272000-151371400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:151290200-151367400	Weak transcription	K562	blood
3	chr4:151292400-151361000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:151313200-151358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr4:151313600-151358000	Weak transcription	GM12878-XiMat	blood
6	chr4:151315800-151359400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:151317400-151358800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:151319000-151371000	Weak transcription	Left Ventricle	heart
9	chr4:151331400-151358800	Weak transcription	Liver	Liver
10	chr4:151333000-151357800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:151333000-151408000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:151337200-151363200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:151343600-151356400	Weak transcription	Primary T cells from cord blood	blood
14	chr4:151344800-151356200	Weak transcription	Spleen	Spleen
15	chr4:151344800-151361600	Weak transcription	Gastric	stomach
16	chr4:151344800-151387200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:151345000-151355800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:151345000-151357600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:151345000-151363000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:151345000-151366200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:151345000-151367000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:151345000-151389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:151345200-151365800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:151345200-151371200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:151346600-151360600	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:151352600-151377000	Weak transcription	Primary B cells from cord blood	blood
27	chr4:151353400-151356200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:151355200-151357600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:151355200-151360800	Weak transcription	Fetal Kidney	kidney
30	chr4:151355600-151356600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:151355600-151356600	Strong transcription	Fetal Intestine Small	intestine
32	chr4:151355600-151356800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:151355600-151356800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:151355600-151356800	Strong transcription	Fetal Intestine Large	intestine
35	chr4:151355600-151357600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:151355600-151358000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:151355600-151359200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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