Variant report

Variant	rs2804934
Chromosome Location	chr10:50368832-50368833
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50360501..50363437-chr10:50365924..50369669,5	K562	blood:
2	chr10:50349435..50351722-chr10:50368271..50370648,2	K562	blood:
3	chr10:50368282..50370394-chr10:50503941..50507857,3	K562	blood:
4	chr10:50364786..50371686-chr10:50371829..50376692,10	K562	blood:
5	chr10:50368282..50369845-chr10:50503941..50506916,2	K562	blood:
6	chr10:50363975..50366522-chr10:50367488..50370689,4	K562	blood:
7	chr10:50340659..50342841-chr10:50368235..50370770,2	K562	blood:

Variant related genes	Relation type
ENSG00000204161	Chromatin interaction
ENSG00000236208	Chromatin interaction
ENSG00000172538	Chromatin interaction
ENSG00000177354	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11100988	0.86[CEU][hapmap];0.93[CHB][hapmap]
rs11100989	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11100990	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[ASN][1000 genomes]
rs12240534	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12255055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs12267388	0.81[ASN][1000 genomes]
rs12269023	0.92[CEU][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs12765281	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13088	0.84[GIH][hapmap];0.83[MEX][hapmap]
rs17701186	0.87[ASN][1000 genomes]
rs17773851	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17782733	0.94[CHB][hapmap];0.91[JPT][hapmap]
rs1986725	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2003044	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2246463	0.88[CEU][hapmap];0.91[TSI][hapmap]
rs2490838	0.91[ASN][1000 genomes]
rs2725179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2725180	0.81[CHD][hapmap]
rs2725181	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2725184	0.89[ASN][1000 genomes]
rs2725185	0.91[ASN][1000 genomes]
rs2725190	0.91[ASN][1000 genomes]
rs2725194	0.83[ASN][1000 genomes]
rs2725200	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs2804928	0.82[ASN][1000 genomes]
rs2804930	0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2804931	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2804932	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2804937	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2804939	0.93[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2804940	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2804941	0.92[ASN][1000 genomes]
rs34056748	0.83[ASN][1000 genomes]
rs34062275	0.87[ASN][1000 genomes]
rs34110351	0.87[ASN][1000 genomes]
rs34436721	0.89[ASN][1000 genomes]
rs34467986	0.87[ASN][1000 genomes]
rs34589684	0.87[ASN][1000 genomes]
rs34786393	0.83[ASN][1000 genomes]
rs35007047	0.81[ASN][1000 genomes]
rs4073138	0.89[ASN][1000 genomes]
rs4073139	0.89[ASN][1000 genomes]
rs4073712	0.83[CEU][hapmap];0.92[CHB][hapmap]
rs4128908	0.91[CEU][hapmap]
rs4129035	0.81[EUR][1000 genomes]
rs4317903	0.81[EUR][1000 genomes]
rs4344406	0.94[CHB][hapmap]
rs4350286	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4403731	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4417190	0.83[CEU][hapmap];0.94[CHB][hapmap]
rs4495812	0.91[ASN][1000 genomes]
rs4497320	0.80[ASN][1000 genomes]
rs4509682	0.86[GIH][hapmap]
rs4558091	0.94[CHB][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs4620641	0.84[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs4838446	0.94[CHB][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs4838447	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs55947405	0.90[ASN][1000 genomes]
rs58893558	0.83[ASN][1000 genomes]
rs6537493	0.87[CEU][hapmap]
rs6537497	0.82[GIH][hapmap]
rs67269950	0.89[ASN][1000 genomes]
rs7072243	0.94[CHB][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs7081243	0.87[ASN][1000 genomes]
rs7097933	0.92[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs7100655	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7897289	0.88[CEU][hapmap]
rs7906722	0.88[CEU][hapmap]
rs7916825	0.88[CEU][hapmap]

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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50359000-50382200	Weak transcription	Left Ventricle	heart
2	chr10:50359200-50375400	Weak transcription	Right Atrium	heart
3	chr10:50359400-50373400	Weak transcription	Right Ventricle	heart
4	chr10:50359400-50374000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:50362200-50370600	Weak transcription	Spleen	Spleen
6	chr10:50362400-50380600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:50365400-50374800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:50365400-50374800	Weak transcription	Lung	lung
9	chr10:50365600-50369400	Weak transcription	Fetal Thymus	thymus
10	chr10:50366000-50373600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:50366200-50378200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr10:50366600-50369400	Enhancers	K562	blood
13	chr10:50366600-50369600	Weak transcription	Brain Substantia Nigra	brain
14	chr10:50366800-50369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:50366800-50369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:50366800-50370200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:50366800-50372400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:50366800-50375400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr10:50367400-50369600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr10:50367600-50369200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:50367600-50376200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:50367600-50384600	Weak transcription	Dnd41	blood
23	chr10:50367800-50369400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:50368000-50369000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:50368000-50371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:50368000-50375600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:50368200-50369200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:50368200-50369600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr10:50368200-50380800	Weak transcription	Esophagus	oesophagus
30	chr10:50368600-50369400	Strong transcription	Adipose Nuclei	Adipose
31	chr10:50368600-50372600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr10:50368800-50370600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:50368800-50370800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:50368800-50371000	Strong transcription	Duodenum Mucosa	Duodenum

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