Variant report

Variant	rs12142874
Chromosome Location	chr1:150461801-150461802
allele	A/G
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	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
2	chr1:150459417..150461989-chr1:150549858..150552620,3	MCF-7	breast:
3	chr1:150460613..150462317-chr1:150612137..150614749,2	K562	blood:
4	chr1:150458615..150462130-chr1:150550221..150553114,4	K562	blood:
5	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
6	chr1:150459936..150462426-chr1:150537781..150540425,2	K562	blood:
7	chr1:150457583..150461907-chr1:150523895..150528793,6	MCF-7	breast:
8	chr1:150458453..150462100-chr1:150463666..150466292,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143374	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1011546	1.00[CHB][hapmap]
rs1043293	1.00[CHB][hapmap]
rs1050818	1.00[CHB][hapmap]
rs10788874	1.00[CHB][hapmap]
rs10888582	1.00[CHB][hapmap]
rs11204665	1.00[AFR][1000 genomes]
rs11205360	0.84[EUR][1000 genomes]
rs11205361	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205362	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205366	1.00[CHB][hapmap]
rs11205367	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11205369	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs11205374	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205377	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205383	1.00[CHB][hapmap]
rs11205386	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11548267	1.00[ASN][1000 genomes]
rs11576289	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576293	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580764	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580810	1.00[CHB][hapmap]
rs11581051	1.00[CHB][hapmap]
rs11582094	1.00[CHB][hapmap]
rs11582835	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584761	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586880	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587606	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587837	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808242	1.00[CHB][hapmap]
rs11811950	1.00[CHB][hapmap]
rs12119250	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12119320	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120428	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12120683	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120867	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121966	1.00[CHB][hapmap]
rs12123044	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126958	1.00[CHB][hapmap]
rs12128385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128653	1.00[CHB][hapmap]
rs12129037	0.81[EUR][1000 genomes]
rs12129491	1.00[CHB][hapmap]
rs12130082	1.00[CHB][hapmap]
rs12130583	1.00[CHB][hapmap]
rs12131083	1.00[CHB][hapmap]
rs12131376	1.00[ASN][1000 genomes]
rs12132918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12134306	1.00[CHB][hapmap]
rs12134634	1.00[ASN][1000 genomes]
rs12134682	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138787	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139286	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139770	1.00[ASN][1000 genomes]
rs12140697	1.00[CHB][hapmap]
rs12142178	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142196	1.00[CHB][hapmap]
rs12142331	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144315	0.86[EUR][1000 genomes]
rs12144958	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145630	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726415	1.00[CHB][hapmap]
rs12731738	1.00[CHB][hapmap]
rs12738490	1.00[CHB][hapmap]
rs12739019	1.00[CHB][hapmap]
rs12741448	1.00[CHB][hapmap]
rs12757823	1.00[CHB][hapmap]
rs1343965	1.00[CHB][hapmap]
rs16835780	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16836143	1.00[CHB][hapmap]
rs2133128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28560019	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34355066	1.00[ASN][1000 genomes]
rs34645101	1.00[ASN][1000 genomes]
rs34755378	1.00[ASN][1000 genomes]
rs34848955	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3850841	1.00[CHB][hapmap]
rs3862206	1.00[CHB][hapmap]
rs41264469	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41266901	1.00[ASN][1000 genomes]
rs41266927	1.00[ASN][1000 genomes]
rs41273537	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41300865	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41317523	1.00[ASN][1000 genomes]
rs4265470	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55973252	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133109	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660291	1.00[ASN][1000 genomes]
rs6672493	1.00[ASN][1000 genomes]
rs6686809	1.00[CHB][hapmap]
rs72694993	1.00[ASN][1000 genomes]
rs72696807	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696808	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696824	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696828	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696841	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696848	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696852	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696855	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72696859	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696873	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696880	1.00[AFR][1000 genomes]
rs72696901	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698822	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698842	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698892	1.00[AFR][1000 genomes]
rs72700804	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72700810	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72700813	1.00[AFR][1000 genomes]
rs72700822	1.00[ASN][1000 genomes]
rs7364905	1.00[ASN][1000 genomes]
rs7542068	1.00[CHB][hapmap]
rs7550234	1.00[ASN][1000 genomes]
rs7552883	1.00[CHB][hapmap]
rs942453	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651184	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150460400-150463000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:150460600-150463000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:150460600-150463000	Weak transcription	Aorta	Aorta
4	chr1:150460600-150463000	Weak transcription	Gastric	stomach
5	chr1:150460600-150463800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:150460600-150469000	Weak transcription	Pancreas	Pancrea
7	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
8	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
9	chr1:150460800-150462000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:150460800-150462000	Weak transcription	Left Ventricle	heart
11	chr1:150460800-150462200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:150460800-150462800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:150460800-150462800	Weak transcription	Fetal Brain Female	brain
14	chr1:150460800-150462800	Weak transcription	Ovary	ovary
15	chr1:150460800-150462800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:150460800-150463000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:150460800-150463000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:150460800-150463000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:150460800-150463000	Weak transcription	Esophagus	oesophagus
20	chr1:150460800-150463000	Weak transcription	Lung	lung
21	chr1:150460800-150463200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:150460800-150463200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:150460800-150463400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:150460800-150463800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:150460800-150463800	Weak transcription	Psoas Muscle	Psoas
26	chr1:150460800-150464600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:150460800-150465600	Weak transcription	Small Intestine	intestine
28	chr1:150460800-150468600	Weak transcription	NHDF-Ad	bronchial
29	chr1:150460800-150470000	Weak transcription	HMEC	breast
30	chr1:150460800-150470600	Weak transcription	Fetal Brain Male	brain
31	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:150461000-150462000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:150461000-150462000	Weak transcription	Fetal Stomach	stomach
36	chr1:150461000-150462200	Weak transcription	Right Ventricle	heart
37	chr1:150461000-150462400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:150461000-150462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:150461000-150462800	Weak transcription	Spleen	Spleen
40	chr1:150461000-150462800	Weak transcription	HepG2	liver
41	chr1:150461000-150463000	Weak transcription	HUVEC	blood vessel
42	chr1:150461000-150463200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:150461000-150463200	Weak transcription	Brain Germinal Matrix	brain
44	chr1:150461000-150463200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:150461000-150463200	Weak transcription	HSMM	muscle
46	chr1:150461000-150464800	Weak transcription	A549	lung
47	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
48	chr1:150461200-150464200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:150461200-150466400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:150461200-150466800	Strong transcription	H1 Cell Line	embryonic stem cell

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