Variant report

Variant	rs12511109
Chromosome Location	chr4:151361745-151361746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10007294	0.90[EUR][1000 genomes]
rs10009219	0.81[ASN][1000 genomes]
rs10021103	0.86[ASN][1000 genomes]
rs10021676	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021938	0.90[EUR][1000 genomes]
rs10022107	0.90[EUR][1000 genomes]
rs10027582	0.87[ASN][1000 genomes]
rs10213297	0.87[ASN][1000 genomes]
rs10471055	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099767	0.87[ASN][1000 genomes]
rs11099768	0.85[ASN][1000 genomes]
rs12503255	0.90[EUR][1000 genomes]
rs12507269	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12512965	0.90[EUR][1000 genomes]
rs13434795	0.90[EUR][1000 genomes]
rs1504782	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17632340	0.90[EUR][1000 genomes]
rs28360888	0.87[ASN][1000 genomes]
rs28373637	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28373995	0.90[EUR][1000 genomes]
rs28446645	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28456277	0.90[EUR][1000 genomes]
rs28460294	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28490505	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28533051	0.84[ASN][1000 genomes]
rs28573941	0.90[EUR][1000 genomes]
rs28580527	0.87[ASN][1000 genomes]
rs28587623	0.90[EUR][1000 genomes]
rs28639783	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28643547	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28680477	0.90[EUR][1000 genomes]
rs3922785	0.82[ASN][1000 genomes]
rs4419456	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57925391	0.90[EUR][1000 genomes]
rs61520262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813081	0.87[ASN][1000 genomes]
rs6832909	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6843987	0.87[ASN][1000 genomes]
rs6847441	0.84[ASN][1000 genomes]
rs6848342	0.90[EUR][1000 genomes]
rs6856287	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72953804	0.90[EUR][1000 genomes]
rs72955819	0.90[EUR][1000 genomes]
rs72955894	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957852	0.87[ASN][1000 genomes]
rs72957869	0.87[ASN][1000 genomes]
rs7659148	0.81[ASN][1000 genomes]
rs7664323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7699621	0.82[ASN][1000 genomes]
rs7699721	0.81[ASN][1000 genomes]
rs9307875	0.90[EUR][1000 genomes]
rs9307878	0.87[ASN][1000 genomes]
rs9761873	0.87[ASN][1000 genomes]
rs9968356	0.82[ASN][1000 genomes]
rs9992387	0.90[EUR][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:29 , 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	chr4:151319000-151371000	Weak transcription	Left Ventricle	heart
4	chr4:151333000-151408000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:151337200-151363200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:151344800-151387200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:151345000-151363000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:151345000-151366200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:151345000-151367000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:151345000-151389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:151345200-151365800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:151345200-151371200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:151352600-151377000	Weak transcription	Primary B cells from cord blood	blood
14	chr4:151356200-151386800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:151356600-151371800	Weak transcription	Fetal Intestine Small	intestine
16	chr4:151356600-151411200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:151356800-151376800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:151356800-151377400	Weak transcription	Primary T cells from cord blood	blood
19	chr4:151356800-151391200	Weak transcription	Fetal Intestine Large	intestine
20	chr4:151357600-151364200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:151357600-151369600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:151357800-151363200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:151358000-151370800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:151358400-151377000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:151358400-151398600	Weak transcription	GM12878-XiMat	blood
26	chr4:151358600-151377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:151359200-151368400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:151361200-151363600	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:151361600-151361800	Enhancers	Gastric	stomach

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