Variant report

Variant	rs4238106
Chromosome Location	chr12:50997591-50997592
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50997294..51000239-chr12:51002397..51006149,4	K562	blood:
2	chr12:50992473..50996334-chr12:50996356..50999257,4	MCF-7	breast:
3	chr12:50997294..51000359-chr12:51002397..51006149,5	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1003033	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10431486	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10431535	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10444547	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10459233	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10459234	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10459235	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10506294	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10506295	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10747584	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10747585	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10747587	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783369	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783370	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10783371	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10783372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10783374	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783378	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783381	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783382	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10783383	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783384	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10876042	0.88[EUR][1000 genomes]
rs10876043	0.89[EUR][1000 genomes]
rs10876047	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs10876051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10876056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876058	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876060	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876063	0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10876067	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10876068	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10876070	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876073	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876075	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876076	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169479	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes]
rs11169480	0.92[EUR][1000 genomes]
rs11169481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169483	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169487	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169498	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169505	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169507	1.00[CEU][hapmap];0.90[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169515	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169528	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169532	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169537	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169538	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11169539	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11612002	0.84[CEU][hapmap]
rs11613488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11615933	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12230242	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231309	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12231317	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12580051	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12580479	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12582712	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12809086	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12827022	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17124930	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2243571	0.84[EUR][1000 genomes]
rs2684908	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2700478	0.86[EUR][1000 genomes]
rs34867510	0.88[EUR][1000 genomes]
rs35845404	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3742063	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3742064	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3825402	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3893353	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3935138	0.89[CEU][hapmap]
rs3935869	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4131769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4238107	0.81[ASN][1000 genomes]
rs4238108	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4516034	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768850	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768852	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768858	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4768884	0.92[EUR][1000 genomes]
rs4768888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768889	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768890	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768892	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768893	0.84[CHB][hapmap];0.92[EUR][1000 genomes]
rs4768895	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768899	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768903	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs4768904	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768906	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768907	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768911	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768912	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768913	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768914	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4768975	1.00[CEU][hapmap]
rs55680342	0.90[EUR][1000 genomes]
rs55877451	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61926275	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6580761	0.90[CEU][hapmap]
rs7134976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7305375	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7307419	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7316864	0.86[CEU][hapmap]
rs7956591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs876078	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876079	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876080	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs952318	1.00[CEU][hapmap];0.89[CHB][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9788159	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
3	chr12:50989400-50997600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:50991400-51006600	Weak transcription	Esophagus	oesophagus
5	chr12:50991600-50998200	Weak transcription	Right Ventricle	heart
6	chr12:50991600-51009600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:50991600-51014000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:50991800-51003200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:50991800-51003200	Weak transcription	Small Intestine	intestine
10	chr12:50991800-51006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:50992000-50999000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:50992000-51006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:50992200-50997600	Weak transcription	Brain Germinal Matrix	brain
14	chr12:50992200-51005400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:50992400-50998400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:50992400-51000200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:50992400-51000400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:50992400-51001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:50992400-51004200	Weak transcription	HSMMtube	muscle
20	chr12:50992400-51005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:50992400-51005600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:50992400-51006600	Weak transcription	Psoas Muscle	Psoas
23	chr12:50992400-51007200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:50992400-51007400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:50992400-51007400	Weak transcription	Dnd41	blood
26	chr12:50992400-51009200	Weak transcription	Fetal Thymus	thymus
27	chr12:50992400-51009600	Weak transcription	Thymus	Thymus
28	chr12:50992400-51015200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:50992600-50999000	Weak transcription	NHEK	skin
30	chr12:50992800-51006800	Weak transcription	HSMM	muscle
31	chr12:50992800-51007200	Weak transcription	Hela-S3	cervix
32	chr12:50993000-51013800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:50993000-51013800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:50993200-50999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:50993200-51000600	Weak transcription	Right Atrium	heart
36	chr12:50993400-50999000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:50993400-50999800	Weak transcription	Lung	lung
38	chr12:50993600-51000600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:50993600-51007200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:50993600-51013400	Weak transcription	GM12878-XiMat	blood
41	chr12:50994200-51001000	Weak transcription	Fetal Lung	lung
42	chr12:50994200-51005800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:50994400-51000400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:50994400-51001200	Weak transcription	A549	lung
45	chr12:50994400-51001400	Weak transcription	Brain Angular Gyrus	brain
46	chr12:50994400-51012400	Weak transcription	Primary T cells from cord blood	blood
47	chr12:50994600-51018600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:50995000-50997800	Weak transcription	Liver	Liver
49	chr12:50995000-50998200	Weak transcription	Gastric	stomach
50	chr12:50995000-51000400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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