Variant report

Variant	rs1861436
Chromosome Location	chr2:37074951-37074952
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	chr2:37073507..37075966-chr2:37080375..37082990,2	MCF-7	breast:
2	chr2:37070518..37072329-chr2:37074111..37076172,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1008838	0.86[CHB][hapmap]
rs1015600	0.94[ASN][1000 genomes]
rs10164948	0.80[EUR][1000 genomes]
rs10166161	0.80[EUR][1000 genomes]
rs10176081	0.80[EUR][1000 genomes]
rs10176124	0.80[EUR][1000 genomes]
rs10180003	0.80[EUR][1000 genomes]
rs10182741	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs10183626	0.81[EUR][1000 genomes]
rs10185737	0.88[EUR][1000 genomes]
rs10189328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10189918	0.88[EUR][1000 genomes]
rs10201963	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs10202311	0.88[EUR][1000 genomes]
rs1043290	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10490659	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[ASN][1000 genomes]
rs10495868	1.00[CHB][hapmap]
rs10865120	0.86[CHB][hapmap]
rs11124549	0.91[ASN][1000 genomes]
rs11124552	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs11673811	0.80[EUR][1000 genomes]
rs11674211	1.00[CHB][hapmap]
rs11675109	1.00[CHB][hapmap]
rs11676225	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[ASN][1000 genomes]
rs11678303	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11678807	0.80[EUR][1000 genomes]
rs11680617	0.80[EUR][1000 genomes]
rs11680663	0.80[EUR][1000 genomes]
rs11682966	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[ASN][1000 genomes]
rs11685600	0.88[EUR][1000 genomes]
rs11904023	1.00[CHB][hapmap]
rs12479195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12624290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13020894	0.82[ASN][1000 genomes]
rs13388406	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13401327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13408941	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13413438	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs13432707	0.80[EUR][1000 genomes]
rs17020005	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17020024	0.85[ASN][1000 genomes]
rs17020069	1.00[CHB][hapmap]
rs17020072	1.00[CHB][hapmap]
rs17020074	1.00[CHB][hapmap]
rs17020084	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs17442690	0.96[ASN][1000 genomes]
rs17442739	0.96[ASN][1000 genomes]
rs1861433	1.00[CHB][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1861434	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041828	0.81[EUR][1000 genomes]
rs2160379	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2216106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2255330	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287087	0.96[ASN][1000 genomes]
rs2302658	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2372812	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2540918	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2540919	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2540920	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2540925	0.87[ASN][1000 genomes]
rs2540931	0.87[ASN][1000 genomes]
rs2540936	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2540939	0.91[ASN][1000 genomes]
rs2540940	0.89[ASN][1000 genomes]
rs2540941	0.91[ASN][1000 genomes]
rs2541000	0.86[CHB][hapmap]
rs2691104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2691109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691111	0.80[MKK][hapmap]
rs2691114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2691116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2691118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2691122	0.82[ASN][1000 genomes]
rs2717492	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2717494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2717495	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2717496	0.86[ASN][1000 genomes]
rs2717501	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs2717505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2717508	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2717509	1.00[CHB][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2717510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2717511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.94[ASN][1000 genomes]
rs2717512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2717516	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2717518	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2717519	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2717520	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2717522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28718824	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28754306	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2888418	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35622893	0.81[EUR][1000 genomes]
rs3732070	1.00[JPT][hapmap]
rs3770775	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs3845779	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs41486347	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[ASN][1000 genomes]
rs4635515	1.00[CHB][hapmap]
rs55993128	0.82[ASN][1000 genomes]
rs56186144	0.82[ASN][1000 genomes]
rs57671539	0.82[ASN][1000 genomes]
rs57884362	0.83[ASN][1000 genomes]
rs58970461	0.82[ASN][1000 genomes]
rs6544052	1.00[JPT][hapmap]
rs6715033	0.87[ASN][1000 genomes]
rs6739553	0.85[ASN][1000 genomes]
rs6756876	0.87[ASN][1000 genomes]
rs6759472	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs723673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562109	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7579735	0.96[EUR][1000 genomes]
rs7581702	1.00[CHB][hapmap];0.88[TSI][hapmap]
rs9789527	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9789649	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs998321	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.89[MKK][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37062400-37075800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:37062800-37076000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:37063000-37076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:37064000-37076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
8	chr2:37066000-37076200	Weak transcription	Lung	lung
9	chr2:37066200-37075200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:37066400-37076200	Weak transcription	Fetal Stomach	stomach
11	chr2:37066800-37076200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:37066800-37092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:37067400-37076000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:37067400-37076400	Weak transcription	Aorta	Aorta
15	chr2:37067400-37083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:37067600-37075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:37067600-37075200	Weak transcription	Fetal Intestine Large	intestine
19	chr2:37067600-37075200	Weak transcription	Ovary	ovary
20	chr2:37067600-37076200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:37067600-37076400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:37067600-37083800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
24	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
25	chr2:37068200-37075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:37068200-37075200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:37068200-37075800	Weak transcription	NH-A	brain
28	chr2:37068400-37076200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:37068400-37076200	Weak transcription	HMEC	breast
30	chr2:37068400-37095600	Weak transcription	Fetal Kidney	kidney
31	chr2:37068600-37076000	Weak transcription	GM12878-XiMat	blood
32	chr2:37068600-37076200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:37068600-37076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:37068600-37076200	Weak transcription	Brain Angular Gyrus	brain
35	chr2:37068600-37076200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:37068600-37076200	Weak transcription	Hela-S3	cervix
37	chr2:37068600-37083800	Weak transcription	HSMMtube	muscle
38	chr2:37068600-37085600	Weak transcription	A549	lung
39	chr2:37068800-37075200	Weak transcription	Liver	Liver
40	chr2:37068800-37075200	Weak transcription	NHDF-Ad	bronchial
41	chr2:37068800-37076200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:37068800-37082400	Weak transcription	Fetal Brain Female	brain
43	chr2:37069400-37076200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:37069800-37075800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:37069800-37082400	Weak transcription	HepG2	liver
46	chr2:37070000-37076600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:37070200-37075200	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:37070200-37076200	Weak transcription	Thymus	Thymus
49	chr2:37070200-37076400	Weak transcription	NHEK	skin
50	chr2:37070400-37075200	Weak transcription	Fetal Muscle Trunk	muscle

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