Variant report

Variant	rs10193713
Chromosome Location	chr2:153591263-153591264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153589125..153592910-chr2:153595125..153598674,4	K562	blood:
2	chr2:153564281..153565931-chr2:153590243..153592879,2	K562	blood:
3	chr2:153586570..153590244-chr2:153591185..153594577,6	K562	blood:
4	chr2:153572903..153577079-chr2:153590575..153593483,4	K562	blood:

Variant related genes	Relation type
ENSG00000177917	Chromatin interaction
ENSG00000196504	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10169433	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10178613	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13413144	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13419134	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1437677	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2450	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664120	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4664599	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4664608	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62179597	0.82[AFR][1000 genomes]
rs62179635	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62179636	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9989874	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1798142	chr2:153578113-153600123	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875293	chr2:153578900-153617420	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv834422	chr2:153589448-153743069	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:153575800-153611600	Weak transcription	Esophagus	oesophagus
3	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
4	chr2:153576000-153594400	Weak transcription	Left Ventricle	heart
5	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:153576200-153594800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:153576800-153591400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:153576800-153592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:153576800-153592800	Weak transcription	NH-A	brain
10	chr2:153577000-153592600	Weak transcription	Fetal Intestine Large	intestine
11	chr2:153577000-153592800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:153577000-153593000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:153577000-153593000	Weak transcription	Osteobl	bone
14	chr2:153577000-153594400	Weak transcription	Aorta	Aorta
15	chr2:153577000-153594600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:153577000-153595000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:153577200-153592800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:153577200-153593000	Weak transcription	Fetal Kidney	kidney
19	chr2:153577200-153593000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:153577200-153593400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:153577200-153594200	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:153577200-153594600	Weak transcription	Spleen	Spleen
23	chr2:153577200-153617600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:153577400-153593000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:153577400-153593400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:153577600-153594200	Weak transcription	Fetal Intestine Small	intestine
27	chr2:153577600-153617800	Weak transcription	NHLF	lung
28	chr2:153577800-153592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:153577800-153593000	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:153577800-153593000	Weak transcription	Ovary	ovary
31	chr2:153577800-153594800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:153578200-153593400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:153578400-153591400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:153578400-153591800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:153578600-153605800	Weak transcription	Fetal Heart	heart
36	chr2:153578800-153591600	Weak transcription	Liver	Liver
37	chr2:153578800-153592800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:153578800-153592800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:153579000-153591400	Weak transcription	Brain Germinal Matrix	brain
40	chr2:153579000-153592600	Weak transcription	HUVEC	blood vessel
41	chr2:153579200-153593400	Weak transcription	Fetal Brain Female	brain
42	chr2:153579600-153602000	Weak transcription	Fetal Brain Male	brain
43	chr2:153579800-153591400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:153579800-153591600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:153579800-153599800	Weak transcription	A549	lung
46	chr2:153580600-153591400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:153581400-153593000	Weak transcription	K562	blood
48	chr2:153581600-153593400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:153582000-153610600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:153583000-153591600	Weak transcription	NHDF-Ad	bronchial

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