Variant report

Variant	rs17743157
Chromosome Location	chr2:148675728-148675729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148674045..148677009-chr2:148679440..148682573,3	K562	blood:
2	chr2:148674607..148677009-chr2:148679440..148681399,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1234398	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs1234414	0.86[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs1234417	1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs1234420	0.80[EUR][1000 genomes]
rs1234423	0.80[EUR][1000 genomes]
rs1424941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469211	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218938	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17225402	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17225423	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17225430	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17232078	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17691284	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17692648	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17693310	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17741344	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17741978	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17742134	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17742246	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17742342	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1994189	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3754541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820715	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60809905	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62169472	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62169473	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62169474	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62169475	0.82[ASN][1000 genomes]
rs62169477	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62169478	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62169479	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62169480	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62169481	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62169482	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169483	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169531	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62169532	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62169550	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6430280	0.80[EUR][1000 genomes]
rs6747792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs721344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs730356	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7560502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574172	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7595052	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7602296	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs929940	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs981814	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148646200-148684400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:148646600-148691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
5	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:148651200-148691600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:148652800-148690000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:148652800-148693600	Weak transcription	Lung	lung
9	chr2:148653200-148692000	Weak transcription	Ovary	ovary
10	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
11	chr2:148654000-148690000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:148656200-148676800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:148657800-148683000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
15	chr2:148659600-148719800	Weak transcription	Gastric	stomach
16	chr2:148661600-148718200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:148662000-148683800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:148663000-148692200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:148664600-148721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:148664800-148693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:148668600-148682400	Weak transcription	Psoas Muscle	Psoas
22	chr2:148668600-148683600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:148668600-148691800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:148668800-148683400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:148669200-148678000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:148670600-148690200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:148671200-148690200	Weak transcription	Placenta	Placenta
28	chr2:148671600-148690200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:148671800-148676400	Weak transcription	HSMMtube	muscle
30	chr2:148671800-148677800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:148671800-148679000	Weak transcription	NHDF-Ad	bronchial
32	chr2:148671800-148680200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:148671800-148683200	Weak transcription	Fetal Brain Male	brain
34	chr2:148671800-148683600	Weak transcription	Osteobl	bone
35	chr2:148671800-148687400	Weak transcription	NH-A	brain
36	chr2:148671800-148690200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:148671800-148691800	Weak transcription	NHLF	lung
38	chr2:148671800-148692000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:148671800-148698800	Weak transcription	NHEK	skin
40	chr2:148671800-148719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:148672000-148678600	Weak transcription	Fetal Stomach	stomach
42	chr2:148672000-148683200	Weak transcription	HMEC	breast
43	chr2:148672000-148684600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:148672000-148691400	Weak transcription	Brain Anterior Caudate	brain
45	chr2:148672000-148692000	Weak transcription	Brain Substantia Nigra	brain
46	chr2:148672000-148692800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:148672000-148693000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:148672200-148683200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:148672200-148683400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:148672200-148683800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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