Variant report

Variant	rs13117238
Chromosome Location	chr4:77173914-77173915
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77154984..77156976-chr4:77172946..77174616,2	K562	blood:
2	chr4:77133278..77135557-chr4:77171656..77174471,3	MCF-7	breast:
3	chr4:77171208..77175531-chr4:77176138..77180024,6	K562	blood:
4	chr4:77171768..77173922-chr4:77226650..77228948,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189157	Chromatin interaction
ENSG00000138760	Chromatin interaction
ENSG00000118804	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11097313	0.82[JPT][hapmap]
rs11531413	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12643198	0.86[ASN][1000 genomes]
rs12643261	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs12651582	0.81[CHB][hapmap];0.82[MEX][hapmap]
rs13122345	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs13136819	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13137733	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs1441910	0.81[JPT][hapmap]
rs1441914	0.81[JPT][hapmap]
rs1441920	0.85[ASN][1000 genomes]
rs1583943	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1588214	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1596115	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1596116	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs1596117	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17236158	0.82[JPT][hapmap]
rs17308336	0.82[JPT][hapmap]
rs1837867	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1876536	0.82[JPT][hapmap]
rs1876539	0.81[JPT][hapmap]
rs1948997	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2869864	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs3733250	0.81[JPT][hapmap]
rs4859434	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4859437	0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4859635	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4859641	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs4859643	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4859646	0.84[ASN][1000 genomes]
rs4859648	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56896076	0.85[ASN][1000 genomes]
rs6817492	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6817956	0.80[ASN][1000 genomes]
rs6823078	0.81[JPT][hapmap]
rs6846983	0.81[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6851219	0.81[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760851	chr4:77164549-77185144	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516357	chr4:77167242-77178379	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2421530	chr4:77167242-77178676	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77172600-77174000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:77173400-77174400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:77173400-77176600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:77173400-77176600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:77173400-77177200	Weak transcription	Aorta	Aorta
6	chr4:77173400-77177400	Weak transcription	Spleen	Spleen
7	chr4:77173400-77177800	Weak transcription	HepG2	liver
8	chr4:77173600-77174000	Enhancers	Stomach Mucosa	stomach
9	chr4:77173600-77176600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:77173600-77176600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:77173600-77178000	Weak transcription	Liver	Liver
12	chr4:77173600-77178000	Weak transcription	Fetal Intestine Small	intestine
13	chr4:77173600-77202000	Weak transcription	Psoas Muscle	Psoas
14	chr4:77173800-77174000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:77173800-77174000	Enhancers	Brain Angular Gyrus	brain
16	chr4:77173800-77174200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:77173800-77174200	Enhancers	Brain Substantia Nigra	brain
18	chr4:77173800-77174400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr4:77173800-77174800	Weak transcription	Fetal Brain Male	brain
20	chr4:77173800-77185200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:77173800-77185400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:77173800-77185400	Weak transcription	Brain Anterior Caudate	brain
23	chr4:77173800-77186000	Weak transcription	Pancreas	Pancrea
24	chr4:77173800-77191400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:77173800-77196000	Weak transcription	Adipose Nuclei	Adipose
26	chr4:77173800-77215800	Weak transcription	Brain Hippocampus Middle	brain

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