Variant report

Variant	rs10197254
Chromosome Location	chr2:182715566-182715567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182713642..182716430-chr2:182718168..182720643,2	K562	blood:
2	chr2:182606279..182609235-chr2:182713164..182715694,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10165936	1.00[CEU][hapmap]
rs10173114	1.00[CEU][hapmap]
rs10176061	1.00[CEU][hapmap]
rs10176613	1.00[CEU][hapmap]
rs10176757	1.00[CEU][hapmap]
rs10179363	1.00[CEU][hapmap]
rs10179547	1.00[CEU][hapmap]
rs10199645	1.00[CEU][hapmap]
rs10200243	1.00[CEU][hapmap]
rs10201303	1.00[CEU][hapmap]
rs10210215	1.00[CEU][hapmap]
rs10221891	1.00[CEU][hapmap]
rs13389121	0.82[ASN][1000 genomes]
rs13404156	1.00[CEU][hapmap]
rs13425734	1.00[CEU][hapmap]
rs1528024	1.00[CEU][hapmap]
rs1528025	1.00[CEU][hapmap]
rs1528027	1.00[CEU][hapmap]
rs16867498	1.00[CEU][hapmap]
rs16867509	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17456384	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1881158	1.00[CEU][hapmap]
rs1881159	1.00[CEU][hapmap]
rs2059702	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288330	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2303554	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2368224	1.00[CEU][hapmap]
rs2368235	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3731693	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3815877	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3815878	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55732891	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55758877	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433943	1.00[CEU][hapmap]
rs6707164	1.00[CEU][hapmap]
rs6720109	1.00[CEU][hapmap]
rs6720702	1.00[CEU][hapmap]
rs6735322	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6736766	1.00[CEU][hapmap]
rs6744556	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748354	1.00[CEU][hapmap]
rs6751685	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6754192	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6755017	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7557969	1.00[CEU][hapmap]
rs7562680	1.00[CEU][hapmap]
rs7563333	0.82[ASN][1000 genomes]
rs7580410	1.00[CEU][hapmap]
rs7603721	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7608942	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9807949	1.00[CEU][hapmap]
rs9808112	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10197254	LOC647288///LOC730587	trans	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182703200-182717200	Weak transcription	Pancreas	Pancrea
2	chr2:182710400-182717800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:182712800-182716600	Enhancers	Brain Hippocampus Middle	brain
4	chr2:182713200-182716200	Weak transcription	Fetal Stomach	stomach
5	chr2:182714000-182719400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:182714200-182716000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:182714600-182719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:182714800-182715800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:182714800-182715800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:182714800-182716200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:182714800-182718200	Weak transcription	Fetal Kidney	kidney
12	chr2:182715000-182716800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:182715000-182717000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:182715200-182716400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:182715200-182717000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:182715200-182719000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:182715200-182719400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:182715200-182719600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:182715400-182715800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:182715400-182715800	Enhancers	Primary B cells from cord blood	blood
21	chr2:182715400-182716200	Enhancers	HUVEC	blood vessel
22	chr2:182715400-182716400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:182715400-182716400	Enhancers	Brain Anterior Caudate	brain
24	chr2:182715400-182716800	Enhancers	Primary hematopoietic stem cells	blood

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