Variant report

Variant	rs13006184
Chromosome Location	chr2:148706370-148706371
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148704147..148707130-chr2:149248171..149249711,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1014064	0.90[EUR][1000 genomes]
rs1020653	0.93[EUR][1000 genomes]
rs1030317	0.98[EUR][1000 genomes]
rs10460259	0.99[EUR][1000 genomes]
rs10497024	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10803523	0.90[EUR][1000 genomes]
rs1128919	0.94[EUR][1000 genomes]
rs11888152	0.98[EUR][1000 genomes]
rs11889608	0.88[EUR][1000 genomes]
rs11901963	0.98[EUR][1000 genomes]
rs11904758	0.91[EUR][1000 genomes]
rs12053113	0.86[EUR][1000 genomes]
rs12104822	0.95[EUR][1000 genomes]
rs12463554	0.84[ASN][1000 genomes]
rs12463798	0.98[EUR][1000 genomes]
rs12464617	0.88[EUR][1000 genomes]
rs12469015	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12469939	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12476827	0.81[ASN][1000 genomes]
rs12987286	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12989596	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12990262	0.95[EUR][1000 genomes]
rs12990959	0.81[EUR][1000 genomes]
rs12998729	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13000597	0.90[EUR][1000 genomes]
rs13003171	0.84[ASN][1000 genomes]
rs13004041	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13004451	0.87[EUR][1000 genomes]
rs13008497	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13012311	0.98[EUR][1000 genomes]
rs13013743	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13013867	0.88[EUR][1000 genomes]
rs13014904	0.81[EUR][1000 genomes]
rs13016083	0.83[EUR][1000 genomes]
rs13017754	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13019386	0.82[EUR][1000 genomes]
rs13019809	0.92[EUR][1000 genomes]
rs13025219	0.87[EUR][1000 genomes]
rs13025589	0.88[EUR][1000 genomes]
rs13026220	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13026650	0.94[EUR][1000 genomes]
rs13027200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13027706	0.99[EUR][1000 genomes]
rs13028411	0.89[EUR][1000 genomes]
rs13031064	0.99[EUR][1000 genomes]
rs13033589	0.98[EUR][1000 genomes]
rs13033664	0.81[ASN][1000 genomes]
rs13033696	0.91[EUR][1000 genomes]
rs13034494	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13034561	0.81[EUR][1000 genomes]
rs13034793	0.98[EUR][1000 genomes]
rs1345994	0.98[EUR][1000 genomes]
rs1364658	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1364660	0.81[EUR][1000 genomes]
rs1424944	0.88[EUR][1000 genomes]
rs1424946	0.81[EUR][1000 genomes]
rs1424954	0.89[EUR][1000 genomes]
rs1469210	0.93[EUR][1000 genomes]
rs1531032	0.99[EUR][1000 genomes]
rs16855486	0.81[EUR][1000 genomes]
rs1895693	0.90[EUR][1000 genomes]
rs2059422	0.97[EUR][1000 genomes]
rs2161983	0.91[EUR][1000 genomes]
rs2161985	0.80[EUR][1000 genomes]
rs2303392	0.93[EUR][1000 genomes]
rs2307394	0.99[EUR][1000 genomes]
rs34005843	0.81[EUR][1000 genomes]
rs34539489	0.99[EUR][1000 genomes]
rs3764955	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3768687	0.94[EUR][1000 genomes]
rs3768689	0.94[EUR][1000 genomes]
rs4972316	0.81[EUR][1000 genomes]
rs4972317	0.98[EUR][1000 genomes]
rs4972318	0.98[EUR][1000 genomes]
rs4972356	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4972357	0.86[EUR][1000 genomes]
rs57679331	0.99[EUR][1000 genomes]
rs6711673	0.90[EUR][1000 genomes]
rs6729465	0.99[EUR][1000 genomes]
rs6729997	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6760703	0.85[EUR][1000 genomes]
rs723681	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72855232	0.84[ASN][1000 genomes]
rs7559714	0.91[EUR][1000 genomes]
rs7559925	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7594075	0.99[EUR][1000 genomes]
rs7598361	0.81[ASN][1000 genomes]
rs929939	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
9	nsv535969	chr2:148677122-148715921	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1004169	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv535970	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
3	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
5	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
6	chr2:148659600-148719800	Weak transcription	Gastric	stomach
7	chr2:148661600-148718200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:148664600-148721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:148671800-148719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:148672200-148706800	Weak transcription	Brain Germinal Matrix	brain
11	chr2:148675400-148708800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:148676200-148722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:148678000-148718200	Weak transcription	Right Ventricle	heart
14	chr2:148679000-148718800	Weak transcription	Fetal Stomach	stomach
15	chr2:148679600-148737200	Weak transcription	Hela-S3	cervix
16	chr2:148681000-148729600	Weak transcription	NHDF-Ad	bronchial
17	chr2:148683000-148708400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:148683000-148725200	Weak transcription	Fetal Heart	heart
19	chr2:148683200-148708800	Weak transcription	Psoas Muscle	Psoas
20	chr2:148685000-148707600	Weak transcription	Fetal Brain Male	brain
21	chr2:148685000-148708600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:148685200-148707400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:148688200-148719800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:148688200-148728600	Weak transcription	NH-A	brain
25	chr2:148688400-148707400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:148688800-148708600	Weak transcription	GM12878-XiMat	blood
27	chr2:148688800-148719600	Weak transcription	Thymus	Thymus
28	chr2:148689200-148708600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:148691000-148734600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:148692000-148720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:148692400-148713400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:148692800-148719400	Weak transcription	HSMMtube	muscle
33	chr2:148693000-148712600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:148693400-148708400	Weak transcription	Fetal Lung	lung
35	chr2:148693400-148715600	Weak transcription	NHLF	lung
36	chr2:148693400-148722000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:148693800-148724200	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:148694000-148707800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:148694000-148708400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:148694000-148708400	Weak transcription	HSMM	muscle
41	chr2:148694000-148708600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:148694000-148719600	Weak transcription	Fetal Brain Female	brain
43	chr2:148694000-148721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:148694000-148725400	Weak transcription	Brain Anterior Caudate	brain
45	chr2:148694000-148731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:148694200-148706800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:148694200-148708800	Weak transcription	HMEC	breast
48	chr2:148694200-148708800	Weak transcription	HUVEC	blood vessel
49	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:148694400-148708200	Weak transcription	Fetal Muscle Leg	muscle

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