Variant report

Variant	rs4446101
Chromosome Location	chr2:40613207-40613208
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	chr1:117909379..117910083-chr2:40612320..40613217,2	NB4	blood:

Variant related genes	Relation type
ENSG00000198162	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10165478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10168748	0.95[CHB][hapmap]
rs10171704	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10177941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10178405	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10181006	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10181007	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189274	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10192458	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10192546	0.91[CHB][hapmap]
rs10490051	0.85[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap]
rs11690171	0.90[CHB][hapmap]
rs11691852	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12471797	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12613022	0.81[ASN][1000 genomes]
rs12712692	0.85[CHB][hapmap]
rs12987979	0.91[CHB][hapmap]
rs12988856	0.90[CHB][hapmap]
rs12989200	0.95[CHB][hapmap]
rs12989852	0.91[CHB][hapmap]
rs12995004	0.91[CHB][hapmap]
rs12996962	0.81[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13012983	1.00[YRI][hapmap]
rs13014950	0.91[CHB][hapmap]
rs13017968	0.90[CHB][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13022231	0.91[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13031340	0.86[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13031441	0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13032770	0.81[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs13405065	0.90[CHB][hapmap]
rs1477002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477004	0.95[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477005	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1558655	0.85[CHB][hapmap]
rs1861293	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2192773	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2192776	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192779	0.86[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373857	0.95[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2373859	0.83[GIH][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs2888676	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4452199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4452200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4552227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588235	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645043	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4952409	0.90[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6544323	0.90[CHB][hapmap]
rs6544324	0.95[CHB][hapmap]
rs6544330	0.95[CHB][hapmap]
rs6544333	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6544334	0.90[CHB][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6718322	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6738580	0.95[CHB][hapmap]
rs6738673	0.91[CHB][hapmap]
rs6745881	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6747285	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7424049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574340	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7598561	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7599953	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs918002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9309055	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs967351	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs981739	0.95[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs984707	0.90[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs990270	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1804767	chr2:40601179-40615520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv1805808	chr2:40601179-40615520	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1805510	chr2:40604270-40615520	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1813430	chr2:40604270-40615520	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv9658	chr2:40612009-40615720	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1805645	chr2:40612072-40614700	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1810345	chr2:40612072-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1813025	chr2:40612072-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1804337	chr2:40612072-40615520	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1814051	chr2:40612072-40615520	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3457570	chr2:40612274-40615055	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv20227	chr2:40612304-40614782	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3457571	chr2:40612322-40615030	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3457568	chr2:40612339-40615095	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1805646	chr2:40612347-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1807889	chr2:40612347-40614700	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1812971	chr2:40612347-40614700	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1804911	chr2:40612347-40615520	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1806109	chr2:40612347-40620150	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1815130	chr2:40612347-40620150	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv3457569	chr2:40612353-40615110	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv1806296	chr2:40612383-40614532	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv1814306	chr2:40612383-40614532	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv3457572	chr2:40612406-40614935	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv3457573	chr2:40612420-40614933	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv1804838	chr2:40612503-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv1805111	chr2:40612503-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv1805195	chr2:40612503-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	esv1805949	chr2:40612503-40614700	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv1807639	chr2:40612503-40614700	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	esv1808036	chr2:40612503-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv1808432	chr2:40612503-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv1811966	chr2:40612503-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	esv1814007	chr2:40612503-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv1814829	chr2:40612503-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv1809429	chr2:40612726-40614700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	esv2760574	chr2:40612784-40621110	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40601000-40621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:40608400-40622000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:40609600-40621800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:40610000-40619000	Weak transcription	Dnd41	blood
5	chr2:40611000-40613600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:40611400-40616200	Weak transcription	Left Ventricle	heart
7	chr2:40612400-40613800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:40612600-40614000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:40612600-40614000	Weak transcription	Osteobl	bone
10	chr2:40612600-40622600	Weak transcription	HSMM	muscle
11	chr2:40612800-40613800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:40612800-40614000	Weak transcription	Fetal Heart	heart
13	chr2:40613000-40616000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:40613000-40618800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:40613000-40619200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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