Variant report

Variant	rs871527
Chromosome Location	chr1:150462088-150462089
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
2	chr1:150460613..150462317-chr1:150612137..150614749,2	K562	blood:
3	chr1:150458615..150462130-chr1:150550221..150553114,4	K562	blood:
4	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
5	chr1:150459936..150462426-chr1:150537781..150540425,2	K562	blood:
6	chr1:150458453..150462100-chr1:150463666..150466292,4	K562	blood:

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

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11810419	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12116970	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12129037	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12718416	0.96[ASN][1000 genomes]
rs12729719	0.96[ASN][1000 genomes]
rs13057	0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16830437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16835699	0.85[ASN][1000 genomes]
rs16835708	0.85[ASN][1000 genomes]
rs16835782	0.88[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16835791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16835911	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836130	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836139	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836442	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836576	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16836594	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16836601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16836786	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16836940	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836943	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1694386	0.84[JPT][hapmap]
rs17599629	0.83[JPT][hapmap]
rs2015966	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2275245	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2275779	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3737319	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3738322	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3795702	0.86[CHB][hapmap]
rs3806389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3850843	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4926420	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4926421	1.00[JPT][hapmap]
rs4926430	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4970925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4970927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4970946	0.96[ASN][1000 genomes]
rs4970947	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4971044	0.88[CHB][hapmap]
rs522068	0.87[ASN][1000 genomes]
rs56882505	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56909494	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57163995	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57272513	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57361164	0.85[ASN][1000 genomes]
rs57971032	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58373639	0.84[AMR][1000 genomes]
rs58419446	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58516261	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59367061	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59378360	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59639798	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59662772	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60459288	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60531845	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60730811	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60758881	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6663989	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs6679726	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6680391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6700009	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6700607	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71622690	0.89[ASN][1000 genomes]
rs73011384	0.85[ASN][1000 genomes]
rs73011400	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73013119	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73013129	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015063	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015078	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015081	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015095	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015096	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73017006	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73017073	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73017086	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73017092	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73017102	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019028	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019054	0.84[AFR][1000 genomes]
rs7543314	0.82[AMR][1000 genomes]
rs953127	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	chr1:150460800-150462200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:150460800-150462800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:150460800-150462800	Weak transcription	Fetal Brain Female	brain
12	chr1:150460800-150462800	Weak transcription	Ovary	ovary
13	chr1:150460800-150462800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:150460800-150463000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:150460800-150463000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:150460800-150463000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:150460800-150463000	Weak transcription	Esophagus	oesophagus
18	chr1:150460800-150463000	Weak transcription	Lung	lung
19	chr1:150460800-150463200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:150460800-150463200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:150460800-150463400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:150460800-150463800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:150460800-150463800	Weak transcription	Psoas Muscle	Psoas
24	chr1:150460800-150464600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:150460800-150465600	Weak transcription	Small Intestine	intestine
26	chr1:150460800-150468600	Weak transcription	NHDF-Ad	bronchial
27	chr1:150460800-150470000	Weak transcription	HMEC	breast
28	chr1:150460800-150470600	Weak transcription	Fetal Brain Male	brain
29	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:150461000-150462200	Weak transcription	Right Ventricle	heart
33	chr1:150461000-150462400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:150461000-150462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:150461000-150462800	Weak transcription	Spleen	Spleen
36	chr1:150461000-150462800	Weak transcription	HepG2	liver
37	chr1:150461000-150463000	Weak transcription	HUVEC	blood vessel
38	chr1:150461000-150463200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:150461000-150463200	Weak transcription	Brain Germinal Matrix	brain
40	chr1:150461000-150463200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:150461000-150463200	Weak transcription	HSMM	muscle
42	chr1:150461000-150464800	Weak transcription	A549	lung
43	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
44	chr1:150461200-150464200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:150461200-150466400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:150461200-150466800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:150461200-150473600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:150461400-150463200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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