Variant report

Variant	rs12444484
Chromosome Location	chr16:71661536-71661537
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
2	chr16:71660779..71663588-chr16:71917487..71919954,2	MCF-7	breast:
3	chr16:71515385..71518984-chr16:71658944..71661712,3	MCF-7	breast:
4	chr16:71597451..71600395-chr16:71660172..71663639,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102984	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000260886	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1035545	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10500559	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1058747	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075889	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075890	0.87[ASN][1000 genomes]
rs11075891	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11075892	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11075895	0.83[JPT][hapmap]
rs11075900	0.84[EUR][1000 genomes]
rs11075902	0.82[EUR][1000 genomes]
rs11539980	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11641873	0.84[EUR][1000 genomes]
rs11643690	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11645467	0.84[EUR][1000 genomes]
rs11646635	0.84[EUR][1000 genomes]
rs11646748	0.84[EUR][1000 genomes]
rs11647873	0.81[ASN][1000 genomes]
rs11648240	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11648674	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11859729	0.89[JPT][hapmap]
rs11862798	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11866795	0.89[JPT][hapmap]
rs12051443	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12051449	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12051506	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12447856	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs12448226	0.90[EUR][1000 genomes]
rs12597065	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12598902	0.96[CEU][hapmap];0.90[JPT][hapmap]
rs12920243	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs12924258	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12926987	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12927320	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12930206	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs12930418	0.84[ASN][1000 genomes]
rs12932850	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12935426	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1392483	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs1392487	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1477386	0.88[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1582589	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs172649	0.83[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs172650	0.87[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2032920	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2036337	0.84[EUR][1000 genomes]
rs2036338	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs2113222	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2270830	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs2270831	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs2270832	0.95[CEU][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs2278031	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2303224	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303225	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2334879	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2334883	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2334884	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2432519	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2432520	0.87[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2432524	0.92[CEU][hapmap]
rs28439683	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28582831	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28636800	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28704189	0.80[EUR][1000 genomes]
rs310331	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34161748	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34734042	0.85[EUR][1000 genomes]
rs34764568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35173463	0.84[EUR][1000 genomes]
rs35939203	0.91[ASN][1000 genomes]
rs3751817	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3752681	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3829537	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3925658	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4444347	0.90[JPT][hapmap]
rs4788442	0.84[EUR][1000 genomes]
rs4788544	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4788546	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788547	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788549	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4788551	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4788552	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4788554	0.84[EUR][1000 genomes]
rs4788558	1.00[CEU][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs4788808	0.83[JPT][hapmap]
rs4788809	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788812	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788814	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788817	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788826	1.00[CEU][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4788827	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57997630	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60881203	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62053077	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62053078	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62053107	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62053108	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7185997	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs7186717	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7188406	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs7195840	0.95[ASN][1000 genomes]
rs7201754	0.89[JPT][hapmap];0.90[YRI][hapmap]
rs7202288	0.89[JPT][hapmap]
rs7203231	0.89[JPT][hapmap]
rs7206039	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7404381	0.84[EUR][1000 genomes]
rs8048057	1.00[CEU][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8048210	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8052489	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8052999	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8056823	0.82[ASN][1000 genomes]
rs8060867	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs8061970	0.89[JPT][hapmap]
rs8062441	0.82[EUR][1000 genomes]
rs8062477	0.82[EUR][1000 genomes]
rs8203	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs918721	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs951453	0.84[EUR][1000 genomes]
rs951939	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs979789	0.93[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9921270	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9922054	0.81[EUR][1000 genomes]
rs9923264	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9923336	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9925069	0.80[EUR][1000 genomes]
rs9925228	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9927336	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9927437	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9930543	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9932415	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9933961	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9936903	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9937280	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9939455	1.00[CEU][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs9939471	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9939658	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9940142	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9940217	1.00[CEU][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9940707	0.89[JPT][hapmap]
rs9940990	0.96[CEU][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71659600-71661600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
2	chr16:71659600-71661800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr16:71659600-71661800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr16:71659600-71661800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr16:71659600-71662000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr16:71659600-71662000	Active TSS	Duodenum Mucosa	Duodenum
7	chr16:71659600-71662800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr16:71659800-71661600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:71659800-71661600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
10	chr16:71659800-71661800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr16:71659800-71661800	Active TSS	Ovary	ovary
12	chr16:71659800-71661800	Active TSS	Pancreas	Pancrea
13	chr16:71659800-71661800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr16:71659800-71662000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr16:71660400-71661600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:71660400-71662400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr16:71660600-71662000	Active TSS	Rectal Smooth Muscle	rectum
18	chr16:71660800-71661600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:71661000-71662600	Active TSS	Colonic Mucosa	Colon
20	chr16:71661000-71662600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr16:71661000-71662600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:71661000-71671000	Weak transcription	Right Atrium	heart
23	chr16:71661000-71674200	Weak transcription	Gastric	stomach
24	chr16:71661200-71661600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr16:71661200-71661600	Enhancers	HepG2	liver
26	chr16:71661200-71661800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr16:71661200-71661800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:71661200-71661800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:71661200-71662000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr16:71661200-71662000	Enhancers	Lung	lung
31	chr16:71661200-71662600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:71661200-71662800	Weak transcription	Liver	Liver
33	chr16:71661200-71662800	Weak transcription	HMEC	breast
34	chr16:71661200-71663200	Weak transcription	Esophagus	oesophagus
35	chr16:71661200-71663800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr16:71661200-71664000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:71661200-71667000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:71661400-71661600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr16:71661400-71662400	Weak transcription	NHEK	skin
40	chr16:71661400-71662800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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