Variant report

Variant	rs4667101
Chromosome Location	chr2:187361056-187361057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:187361025-187361121	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:187361056-187361244	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:187361014-187361096	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187360313..187361827-chr2:187456108..187458564,2	K562	blood:

Variant related genes	Relation type
ENSG00000213953	TF binding region

Extended variants
information (count: 185 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10172511	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10172850	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188807	0.86[EUR][1000 genomes]
rs10189971	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10192067	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10193268	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10194541	0.88[EUR][1000 genomes]
rs10194719	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10196208	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10203879	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10205506	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10205705	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10210844	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1026118	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931239	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931242	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931245	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11673938	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11676936	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11683595	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11693737	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11884786	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11889909	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12052331	0.85[EUR][1000 genomes]
rs12053380	0.85[EUR][1000 genomes]
rs12463831	0.86[EUR][1000 genomes]
rs12467212	0.84[ASN][1000 genomes]
rs12473076	0.85[ASN][1000 genomes]
rs12473542	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12475522	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12476313	0.85[ASN][1000 genomes]
rs12477683	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12611673	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12612249	0.85[ASN][1000 genomes]
rs12615503	0.86[EUR][1000 genomes]
rs12619990	0.89[EUR][1000 genomes]
rs12620626	0.82[EUR][1000 genomes]
rs12693440	0.86[EUR][1000 genomes]
rs12693444	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12693447	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12693448	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693449	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12998229	0.82[ASN][1000 genomes]
rs12999247	0.85[ASN][1000 genomes]
rs12999438	0.85[ASN][1000 genomes]
rs13003337	0.82[ASN][1000 genomes]
rs13011581	0.85[ASN][1000 genomes]
rs13017038	0.85[ASN][1000 genomes]
rs13018154	0.80[ASN][1000 genomes]
rs13025505	0.85[ASN][1000 genomes]
rs13027135	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13029766	0.81[ASN][1000 genomes]
rs13029818	0.85[ASN][1000 genomes]
rs13030324	0.82[ASN][1000 genomes]
rs1349154	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1375321	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1375324	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1375325	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1375326	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1375327	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1375328	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1448851	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448852	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448854	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448860	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448861	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1448863	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1451874	0.85[ASN][1000 genomes]
rs1470230	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562646	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1562647	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1839193	0.82[EUR][1000 genomes]
rs1900835	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1975594	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1992930	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2044919	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2084485	0.82[ASN][1000 genomes]
rs2119865	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2122087	0.85[ASN][1000 genomes]
rs2197816	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305409	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370691	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2370692	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3768775	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768776	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144785	0.84[ASN][1000 genomes]
rs4144786	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144822	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144824	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4535008	0.81[EUR][1000 genomes]
rs4666701	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4666703	0.82[ASN][1000 genomes]
rs4666704	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666705	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667079	0.86[EUR][1000 genomes]
rs4667080	0.86[EUR][1000 genomes]
rs4667081	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4667086	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4667089	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4667091	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4667092	0.82[ASN][1000 genomes]
rs4667093	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667094	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667095	0.81[ASN][1000 genomes]
rs4667097	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667098	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667099	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667100	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667102	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667103	0.80[ASN][1000 genomes]
rs5008098	0.82[EUR][1000 genomes]
rs56044376	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56393956	0.82[EUR][1000 genomes]
rs56718299	0.86[EUR][1000 genomes]
rs56786415	0.86[EUR][1000 genomes]
rs57289110	0.86[EUR][1000 genomes]
rs58244659	0.86[EUR][1000 genomes]
rs58488407	0.85[EUR][1000 genomes]
rs58579412	0.82[EUR][1000 genomes]
rs59087873	0.86[EUR][1000 genomes]
rs59224241	0.86[EUR][1000 genomes]
rs59360834	0.82[EUR][1000 genomes]
rs60859807	0.86[EUR][1000 genomes]
rs61253791	0.86[EUR][1000 genomes]
rs6434170	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6434171	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434177	0.90[EUR][1000 genomes]
rs6434179	0.85[ASN][1000 genomes]
rs6434181	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434182	0.87[ASN][1000 genomes]
rs6434183	0.87[ASN][1000 genomes]
rs6434184	0.80[ASN][1000 genomes]
rs66593320	0.85[EUR][1000 genomes]
rs6712627	0.82[ASN][1000 genomes]
rs6717081	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6717965	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6728734	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6732188	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6732449	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734700	0.80[ASN][1000 genomes]
rs6740632	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6741184	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741525	0.82[EUR][1000 genomes]
rs6745187	0.85[EUR][1000 genomes]
rs6745873	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6747289	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6749314	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6752407	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6754179	0.86[ASN][1000 genomes]
rs6754898	0.82[EUR][1000 genomes]
rs6755955	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6759502	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6760230	0.85[EUR][1000 genomes]
rs67917059	0.82[EUR][1000 genomes]
rs716130	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72907565	0.85[EUR][1000 genomes]
rs73035230	0.82[EUR][1000 genomes]
rs73035235	0.82[EUR][1000 genomes]
rs73035261	0.86[EUR][1000 genomes]
rs7556814	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558599	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7562659	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7568700	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7569642	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7570883	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7571191	0.84[EUR][1000 genomes]
rs7576323	0.80[ASN][1000 genomes]
rs7581081	0.85[ASN][1000 genomes]
rs7582052	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7586276	0.85[ASN][1000 genomes]
rs7586291	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586995	0.80[EUR][1000 genomes]
rs7587077	0.82[EUR][1000 genomes]
rs7587079	0.82[EUR][1000 genomes]
rs7587410	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7595269	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7597285	0.85[ASN][1000 genomes]
rs7602918	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7606494	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607162	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs980540	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9807987	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs988110	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187351800-187362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:187352200-187365400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:187352200-187365400	Weak transcription	Lung	lung
4	chr2:187352600-187362600	Weak transcription	HSMMtube	muscle
5	chr2:187353400-187361800	Weak transcription	Fetal Heart	heart
6	chr2:187353600-187361200	Weak transcription	Fetal Brain Male	brain
7	chr2:187353600-187362600	Weak transcription	Fetal Stomach	stomach
8	chr2:187353800-187362600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:187354000-187365200	Weak transcription	Thymus	Thymus
10	chr2:187355400-187362600	Weak transcription	Aorta	Aorta
11	chr2:187355600-187365400	Weak transcription	Gastric	stomach
12	chr2:187355600-187365400	Weak transcription	Spleen	Spleen
13	chr2:187355600-187369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:187355800-187370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:187356800-187368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:187357000-187362600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
18	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:187357600-187386200	Strong transcription	Dnd41	blood
21	chr2:187358200-187362600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:187358400-187362600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:187358400-187366800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:187358400-187367200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr2:187358600-187361200	Strong transcription	K562	blood
27	chr2:187358600-187362000	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:187358600-187362600	Weak transcription	Pancreas	Pancrea
29	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
31	chr2:187358800-187361400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:187358800-187362600	Weak transcription	Left Ventricle	heart
33	chr2:187358800-187362600	Weak transcription	Right Atrium	heart
34	chr2:187358800-187367800	Weak transcription	Psoas Muscle	Psoas
35	chr2:187358800-187377200	Strong transcription	HepG2	liver
36	chr2:187359000-187376000	Strong transcription	GM12878-XiMat	blood
37	chr2:187359400-187361400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:187359600-187363200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:187359800-187362400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:187359800-187374800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:187359800-187374800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr2:187359800-187375000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:187359800-187379000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:187359800-187379200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:187359800-187379400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:187359800-187379800	Strong transcription	HSMM	muscle
48	chr2:187359800-187380400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:187359800-187381400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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