Variant report

Variant	rs531472
Chromosome Location	chr1:185564338-185564339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185284623..185287027-chr1:185563917..185565975,3	MCF-7	breast:
2	chr1:185543032..185544873-chr1:185562406..185564543,2	K562	blood:
3	chr1:185562994..185565799-chr1:185568265..185570265,2	K562	blood:
4	chr1:185285599..185288092-chr1:185564328..185566992,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10047200	0.83[ASN][1000 genomes]
rs11605	0.95[MEX][hapmap]
rs12043649	0.83[ASN][1000 genomes]
rs1321986	0.85[ASN][1000 genomes]
rs1321987	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1321988	0.85[ASN][1000 genomes]
rs1407270	0.81[ASN][1000 genomes]
rs1407272	0.83[ASN][1000 genomes]
rs1553486	0.82[ASN][1000 genomes]
rs168004	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824258	0.83[ASN][1000 genomes]
rs170788	0.80[AMR][1000 genomes]
rs186732	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs193088	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2208600	0.80[AMR][1000 genomes]
rs2383328	0.83[ASN][1000 genomes]
rs2383329	0.82[ASN][1000 genomes]
rs2756198	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2756199	0.95[MEX][hapmap]
rs2756204	0.80[AMR][1000 genomes]
rs2756205	0.80[AMR][1000 genomes]
rs2756206	0.95[MEX][hapmap]
rs2756207	0.80[AMR][1000 genomes]
rs2756209	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2756212	0.82[EUR][1000 genomes]
rs2821435	0.95[MEX][hapmap]
rs2821436	0.96[CEU][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2842580	0.81[ASW][hapmap];0.82[CEU][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes]
rs2842582	0.80[AMR][1000 genomes]
rs2842591	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333701	0.80[AMR][1000 genomes]
rs333702	0.80[AMR][1000 genomes]
rs333703	0.80[AMR][1000 genomes]
rs333704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333705	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333706	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs333707	0.82[ASN][1000 genomes]
rs333708	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333709	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs333710	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs333711	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333716	0.80[AMR][1000 genomes]
rs333717	0.80[AMR][1000 genomes]
rs333718	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333719	0.80[AMR][1000 genomes]
rs333720	0.80[AMR][1000 genomes]
rs333721	0.80[AMR][1000 genomes]
rs333724	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333726	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333727	0.80[AMR][1000 genomes]
rs333728	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233122	0.92[ASN][1000 genomes]
rs4233124	0.83[ASN][1000 genomes]
rs4344284	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs4393107	0.83[ASN][1000 genomes]
rs4424453	0.83[ASN][1000 genomes]
rs4424454	0.83[ASN][1000 genomes]
rs4430287	0.83[ASN][1000 genomes]
rs4430288	0.83[ASN][1000 genomes]
rs4523487	0.83[ASN][1000 genomes]
rs479511	0.80[AMR][1000 genomes]
rs486969	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492436	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494700	0.82[EUR][1000 genomes]
rs495416	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs496413	0.80[AMR][1000 genomes]
rs498961	0.81[ASW][hapmap];0.82[CEU][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes]
rs5001199	0.83[ASN][1000 genomes]
rs506429	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs507076	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs516040	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs518472	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs521481	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs534817	0.84[EUR][1000 genomes]
rs545105	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs550874	0.80[AMR][1000 genomes]
rs551806	0.82[CEU][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs552584	0.81[ASW][hapmap];0.82[CEU][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes]
rs553452	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs554711	0.80[AMR][1000 genomes]
rs561469	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs564265	0.82[CEU][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes]
rs567021	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs567846	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56918739	0.83[ASN][1000 genomes]
rs579458	0.80[AMR][1000 genomes]
rs6424996	0.83[ASN][1000 genomes]
rs6424997	0.83[ASN][1000 genomes]
rs6424998	0.92[ASN][1000 genomes]
rs6665025	0.83[ASN][1000 genomes]
rs737490	0.82[CEU][hapmap];0.85[MEX][hapmap]
rs7532978	0.83[ASN][1000 genomes]
rs905700	0.83[ASN][1000 genomes]
rs905701	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185561800-185565200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:185562000-185564400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:185562800-185564800	Enhancers	Fetal Intestine Small	intestine
4	chr1:185563000-185564600	Enhancers	Fetal Heart	heart
5	chr1:185563000-185564800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:185563000-185565400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:185563200-185564600	Enhancers	Fetal Intestine Large	intestine
8	chr1:185563200-185565200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:185563200-185565200	Enhancers	Right Ventricle	heart
10	chr1:185563200-185565400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:185563200-185565400	Enhancers	Left Ventricle	heart
12	chr1:185563400-185565200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:185563400-185565400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:185563600-185564600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:185563600-185565400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:185563800-185564400	Weak transcription	Pancreas	Pancrea
17	chr1:185563800-185564600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:185563800-185564600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:185563800-185565200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:185563800-185568800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:185564000-185565000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:185564000-185565400	Enhancers	Primary T cells from cord blood	blood
23	chr1:185564000-185568400	Weak transcription	Spleen	Spleen
24	chr1:185564000-185568800	Weak transcription	Stomach Mucosa	stomach
25	chr1:185564200-185565000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:185564200-185565400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:185564200-185565400	Enhancers	Primary T helper cells fromperipheralblood	blood

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