Variant report

Variant	rs2932563
Chromosome Location	chr1:151946318-151946319
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151941976..151947771-chr1:152006202..152009564,7	MCF-7	breast:
2	chr1:151890104..151891897-chr1:151945321..151946956,2	K562	blood:
3	chr1:151940762..151943209-chr1:151945501..151947443,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1003107	1.00[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs10158030	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1038746	1.00[CHB][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1038748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1048910	0.82[AFR][1000 genomes]
rs10788813	1.00[CHB][hapmap]
rs10788814	0.82[AFR][1000 genomes]
rs10788816	1.00[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs10888449	0.87[AFR][1000 genomes]
rs10888453	1.00[CHB][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11204911	1.00[CHB][hapmap]
rs11204912	1.00[CHB][hapmap]
rs11204923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11578030	1.00[CHB][hapmap]
rs12723616	1.00[CHB][hapmap]
rs1387834	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];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1387835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1473493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1473494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1473495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1490187	1.00[CHB][hapmap]
rs1490190	0.87[AFR][1000 genomes]
rs1490191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1496037	1.00[CHB][hapmap]
rs1532132	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552605	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552606	1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1552607	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];0.92[ASN][1000 genomes]
rs1602245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602246	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17583707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1826170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826172	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844542	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1873310	1.00[CHB][hapmap]
rs1873311	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];0.92[ASN][1000 genomes]
rs1873312	1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs1967085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2087550	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2130526	0.87[AFR][1000 genomes]
rs2338018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2338203	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs2338204	0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2338210	0.82[AMR][1000 genomes]
rs2932564	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932567	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2932578	0.83[AFR][1000 genomes]
rs2932584	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2932585	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2932588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932592	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];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999509	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2999511	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999514	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];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999515	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2999520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999522	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999523	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2999524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999525	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999527	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999529	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];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999530	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2999535	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2999536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2999537	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2999538	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2999551	1.00[CHB][hapmap]
rs2999552	1.00[CHB][hapmap]
rs2999555	1.00[CHB][hapmap]
rs2999558	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];0.94[EUR][1000 genomes]
rs3001979	1.00[CHB][hapmap]
rs3007672	1.00[CHB][hapmap]
rs3007676	1.00[CHB][hapmap]
rs3007679	1.00[CHB][hapmap]
rs3007682	0.83[AFR][1000 genomes]
rs3007690	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3007692	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3007693	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3007699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007700	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007701	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];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3007704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3122300	1.00[CHB][hapmap]
rs3122301	1.00[CHB][hapmap]
rs3134814	1.00[CHB][hapmap]
rs34370890	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3748805	0.87[AFR][1000 genomes]
rs3762427	0.82[AFR][1000 genomes]
rs4845385	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs4845388	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs4845393	1.00[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs4845660	1.00[CHB][hapmap]
rs4845664	1.00[CHB][hapmap]
rs4845699	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61113720	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6587626	1.00[CHB][hapmap]
rs6587628	1.00[CHB][hapmap]
rs6587629	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs6587630	1.00[CHB][hapmap]
rs6587641	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6659029	1.00[CHB][hapmap]
rs6662463	0.82[AFR][1000 genomes]
rs6685291	1.00[CHB][hapmap]
rs6690443	0.82[AFR][1000 genomes]
rs6691350	1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs6704157	0.89[AFR][1000 genomes]
rs7529451	1.00[CHB][hapmap]
rs7532721	1.00[CHB][hapmap]
rs902314	1.00[CHB][hapmap]
rs902315	1.00[CHB][hapmap]
rs959945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs971888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943225	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
6	nsv2855	chr1:151936470-151966381	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151934600-151953400	Weak transcription	Psoas Muscle	Psoas
2	chr1:151939600-151950800	Enhancers	Fetal Intestine Small	intestine
3	chr1:151941000-151953200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:151941000-151953200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:151941000-151953400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:151941000-151953400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:151941000-151954800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:151941200-151952800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:151941200-151952800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:151941200-151953000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:151941200-151955200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:151941400-151947200	Weak transcription	Liver	Liver
13	chr1:151941600-151961200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:151941800-151949400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:151941800-151953000	Weak transcription	Lung	lung
16	chr1:151941800-151953600	Weak transcription	Gastric	stomach
17	chr1:151941800-151956200	Weak transcription	Pancreas	Pancrea
18	chr1:151942400-151951800	Enhancers	Fetal Intestine Large	intestine
19	chr1:151942600-151946800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:151943000-151949400	Weak transcription	Esophagus	oesophagus
21	chr1:151943000-151953000	Weak transcription	Spleen	Spleen
22	chr1:151943400-151949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:151944800-151946600	Enhancers	Fetal Kidney	kidney
24	chr1:151945000-151946400	Enhancers	Fetal Brain Male	brain
25	chr1:151945000-151946400	Enhancers	HSMMtube	muscle
26	chr1:151945000-151946600	Flanking Active TSS	A549	lung
27	chr1:151945200-151946600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:151945200-151946600	Enhancers	Stomach Mucosa	stomach
29	chr1:151945400-151946800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:151945400-151947400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:151945400-151947800	Enhancers	HepG2	liver
32	chr1:151945400-151949200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:151945400-151952400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:151945400-151953400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:151945600-151946400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:151945600-151946400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:151945600-151946400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:151945600-151946400	Enhancers	Fetal Lung	lung
39	chr1:151945600-151946400	Enhancers	HMEC	breast
40	chr1:151945600-151946400	Enhancers	NHDF-Ad	bronchial
41	chr1:151945600-151946400	Enhancers	NHEK	skin
42	chr1:151945600-151946600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:151945600-151950600	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:151945600-151950800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr1:151945600-151953000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:151945600-151953600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:151945600-151953800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:151945600-151953800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:151945800-151947400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:151945800-151947800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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