Variant report

Variant	rs1444630
Chromosome Location	chr12:20562759-20562760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:20555097..20557105-chr12:20561308..20563453,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10505865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732533	0.98[ASN][1000 genomes]
rs10732534	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10734701	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10743370	1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs10743372	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743373	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743374	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770649	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10770650	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10770651	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770652	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10770653	0.98[ASN][1000 genomes]
rs10770654	0.95[ASN][1000 genomes]
rs10770655	1.00[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10770656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10841501	1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs10841509	0.84[ASN][1000 genomes]
rs10841510	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10841512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841513	0.87[ASN][1000 genomes]
rs10841516	0.87[ASN][1000 genomes]
rs11045203	0.83[ASN][1000 genomes]
rs11045206	0.87[ASN][1000 genomes]
rs11045207	0.87[ASN][1000 genomes]
rs11045211	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs11045218	0.87[ASN][1000 genomes]
rs11045220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11045221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11045222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11045223	0.89[ASN][1000 genomes]
rs11045224	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045225	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045226	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045227	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11045228	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11045230	0.87[ASN][1000 genomes]
rs12297116	0.89[ASN][1000 genomes]
rs12370745	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12370763	0.91[ASN][1000 genomes]
rs12372457	0.95[ASN][1000 genomes]
rs1348583	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.98[ASN][1000 genomes]
rs1444628	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444629	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444631	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1444633	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1444634	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1444643	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444646	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16922851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1822751	0.83[CEU][hapmap]
rs1838447	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4762950	0.85[CEU][hapmap];0.81[GIH][hapmap]
rs4762955	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5014033	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5014034	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5014035	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5014036	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5014037	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5014038	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5014039	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5014040	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60593141	0.80[ASN][1000 genomes]
rs60977432	0.87[ASN][1000 genomes]
rs6487083	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.98[ASN][1000 genomes]
rs6487084	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487085	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487086	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136586	0.89[ASN][1000 genomes]
rs71450706	1.00[ASN][1000 genomes]
rs7299430	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs7310385	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314448	0.98[ASN][1000 genomes]
rs7954501	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957567	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964191	0.80[CEU][hapmap]
rs7964703	0.89[CEU][hapmap]
rs7967538	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979838	0.84[CEU][hapmap]
rs935258	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs978349	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[TSI][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805045	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20542600-20566200	Weak transcription	Aorta	Aorta
2	chr12:20550400-20568200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:20553200-20571200	Weak transcription	Psoas Muscle	Psoas
4	chr12:20556400-20573200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:20556600-20582400	Weak transcription	Osteobl	bone
6	chr12:20557000-20563000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:20558200-20568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:20558400-20563000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:20558400-20566400	Weak transcription	Right Ventricle	heart
10	chr12:20558600-20566200	Weak transcription	Left Ventricle	heart
11	chr12:20558600-20588000	Weak transcription	HUVEC	blood vessel
12	chr12:20559800-20577800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:20561600-20565200	Genic enhancers	Hela-S3	cervix
14	chr12:20561800-20563400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:20561800-20563600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:20561800-20564600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:20561800-20564800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:20562000-20563400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:20562200-20563200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:20562200-20563800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:20562400-20563400	Enhancers	NHDF-Ad	bronchial
22	chr12:20562400-20563600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:20562600-20562800	Enhancers	Fetal Intestine Small	intestine
24	chr12:20562600-20562800	Enhancers	Fetal Kidney	kidney
25	chr12:20562600-20563000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr12:20562600-20563000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:20562600-20563200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:20562600-20563200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:20562600-20563400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:20562600-20563400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:20562600-20563400	Enhancers	Colon Smooth Muscle	Colon
32	chr12:20562600-20563400	Enhancers	Fetal Intestine Large	intestine
33	chr12:20562600-20563600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:20562600-20564800	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:20562600-20564800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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