Variant report

Variant	rs7523303
Chromosome Location	chr1:212434763-212434764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212433580..212437066-chr1:212438671..212444004,6	K562	blood:
2	chr1:212434393..212437066-chr1:212439092..212441986,2	K562	blood:
3	chr1:212433329..212435940-chr1:212436148..212437997,2	K562	blood:
4	chr1:212432994..212436361-chr1:212456253..212459634,4	K562	blood:
5	chr1:212432987..212434829-chr1:212436497..212438053,2	K562	blood:
6	chr1:211770787..211772402-chr1:212434054..212436587,2	K562	blood:
7	chr1:212427899..212432292-chr1:212432529..212438731,7	K562	blood:
8	chr1:212404851..212407731-chr1:212434475..212437929,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11119889	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119896	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119905	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119914	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119915	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119930	0.87[CEU][hapmap]
rs11804839	1.00[ASN][1000 genomes]
rs12060363	0.82[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	1.00[ASN][1000 genomes]
rs12073991	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12076639	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081752	0.82[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082507	0.85[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084885	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087923	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090051	0.87[EUR][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17018845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018933	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17042040	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351394	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351396	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351399	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351402	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351409	0.86[EUR][1000 genomes]
rs376547	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404987	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411278	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862824	1.00[ASN][1000 genomes]
rs57056017	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57737965	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59408650	1.00[ASN][1000 genomes]
rs60399349	1.00[ASN][1000 genomes]
rs66522154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658490	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6666970	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66832725	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67053561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67410757	1.00[ASN][1000 genomes]
rs67947916	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752328	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752361	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752367	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752370	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752373	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752376	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752377	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752384	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752391	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752396	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754304	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	1.00[ASN][1000 genomes]
rs72754375	1.00[ASN][1000 genomes]
rs73088569	1.00[ASN][1000 genomes]
rs7512515	1.00[ASN][1000 genomes]
rs7513727	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519459	0.85[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]
rs7526983	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544944	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549717	0.86[EUR][1000 genomes];1.00[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212429400-212434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:212429400-212435600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:212430400-212435600	Enhancers	HepG2	liver
4	chr1:212430600-212435000	Enhancers	Adipose Nuclei	Adipose
5	chr1:212433200-212435600	Enhancers	HMEC	breast
6	chr1:212433600-212435000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:212433600-212435200	Enhancers	Liver	Liver
8	chr1:212433600-212435400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:212433600-212435800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:212433800-212435000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:212433800-212435000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:212433800-212435200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:212433800-212435200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:212433800-212435600	Enhancers	Hela-S3	cervix
15	chr1:212434000-212434800	Weak transcription	Primary B cells from cord blood	blood
16	chr1:212434000-212434800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:212434000-212435000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:212434000-212435000	Enhancers	Pancreas	Pancrea
19	chr1:212434000-212435400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:212434000-212435400	Enhancers	Stomach Mucosa	stomach
21	chr1:212434000-212435600	Enhancers	Fetal Intestine Small	intestine
22	chr1:212434000-212435800	Enhancers	Fetal Intestine Large	intestine
23	chr1:212434000-212435800	Enhancers	K562	blood
24	chr1:212434200-212435000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:212434200-212435000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:212434200-212435000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:212434200-212435000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:212434200-212435200	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:212434200-212435600	Enhancers	Primary T cells from cord blood	blood
30	chr1:212434400-212434800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr1:212434400-212435000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:212434400-212435000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:212434400-212435000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:212434400-212435000	Enhancers	Gastric	stomach
35	chr1:212434400-212435000	Enhancers	Right Ventricle	heart
36	chr1:212434400-212435200	Enhancers	Right Atrium	heart
37	chr1:212434400-212435400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:212434400-212435600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:212434400-212436000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr1:212434600-212434800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:212434600-212435000	Enhancers	Esophagus	oesophagus
42	chr1:212434600-212435000	Enhancers	Left Ventricle	heart
43	chr1:212434600-212435000	Enhancers	Lung	lung
44	chr1:212434600-212435000	Flanking Active TSS	NHEK	skin
45	chr1:212434600-212435200	Enhancers	HUES64 Cell Line	embryonic stem cell

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