Variant report

Variant	rs4575677
Chromosome Location	chr2:153562670-153562671
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153553187..153554959-chr2:153560191..153562680,2	K562	blood:
2	chr2:153029944..153031491-chr2:153562349..153565101,2	K562	blood:
3	chr2:153523386..153526052-chr2:153560106..153562765,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10497113	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931263	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931271	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931279	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1135617	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674911	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676069	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694512	0.84[ASN][1000 genomes]
rs11901227	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475871	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12478681	0.84[ASN][1000 genomes]
rs12693429	0.84[ASN][1000 genomes]
rs12989903	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995388	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12999331	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13003670	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13006652	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014141	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017131	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022436	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023779	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023975	0.83[EUR][1000 genomes]
rs1370499	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831440	0.83[EUR][1000 genomes]
rs16831456	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17328776	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400456	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400938	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400952	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400980	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083097	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2346551	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34199006	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34454505	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34469468	0.84[EUR][1000 genomes]
rs34619076	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35002744	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421285	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754252	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894330	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35937874	0.92[EUR][1000 genomes]
rs36107565	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122595	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811568	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811569	0.90[EUR][1000 genomes]
rs6434172	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66492085	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66849546	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6728189	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736003	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417232	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417235	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72871148	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7591590	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598878	0.94[AMR][1000 genomes];0.98[EUR][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	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153523400-153571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:153525000-153571800	Weak transcription	Small Intestine	intestine
3	chr2:153533400-153571600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:153533800-153572600	Weak transcription	Fetal Brain Male	brain
5	chr2:153536000-153572600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:153537400-153565400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:153537600-153571800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:153539600-153571800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:153539600-153572400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:153539600-153572400	Weak transcription	Pancreas	Pancrea
11	chr2:153544400-153568200	Weak transcription	Fetal Kidney	kidney
12	chr2:153551200-153562800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:153551200-153563400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:153551200-153567200	Weak transcription	Hela-S3	cervix
15	chr2:153551200-153568000	Weak transcription	Ovary	ovary
16	chr2:153551200-153571400	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:153551200-153571800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:153551200-153571800	Weak transcription	Brain Substantia Nigra	brain
19	chr2:153551200-153572400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:153551400-153563000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:153551400-153566400	Weak transcription	HUVEC	blood vessel
22	chr2:153551400-153568400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:153551400-153571800	Weak transcription	HSMMtube	muscle
24	chr2:153552400-153567400	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:153554200-153566800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:153554400-153565000	Weak transcription	Osteobl	bone
27	chr2:153556800-153568800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:153557200-153570000	Strong transcription	HepG2	liver
29	chr2:153557800-153563800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:153557800-153567800	ZNF genes & repeats	GM12878-XiMat	blood
31	chr2:153557800-153572200	Strong transcription	Fetal Thymus	thymus
32	chr2:153558200-153573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:153558400-153565400	Weak transcription	NHDF-Ad	bronchial
34	chr2:153558600-153562800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:153558600-153565000	Weak transcription	HSMM	muscle
36	chr2:153558600-153565400	Weak transcription	NH-A	brain
37	chr2:153558600-153572400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:153558600-153572400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:153558600-153572400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:153558600-153572400	Weak transcription	NHLF	lung
41	chr2:153558800-153563000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:153558800-153563000	Weak transcription	Left Ventricle	heart
43	chr2:153558800-153563200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:153558800-153564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:153558800-153565000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:153558800-153565200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:153558800-153565200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:153558800-153565200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:153558800-153565400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:153558800-153565400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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