Variant report

Variant	rs10497400
Chromosome Location	chr2:174114111-174114112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:174104088..174106166-chr2:174113223..174115189,2	K562	blood:
2	chr2:174111513..174115416-chr2:174218712..174221117,3	K562	blood:
3	chr2:174112479..174114723-chr2:174115730..174117635,2	K562	blood:

Variant related genes	Relation type
ENSG00000236391	Chromatin interaction
ENSG00000144354	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11901931	0.83[ASN][1000 genomes]
rs12475921	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs1345009	0.87[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs1345010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861417	0.82[CHB][hapmap]
rs16861422	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs16861423	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs16861433	0.87[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs16861441	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs17742715	0.83[GIH][hapmap]
rs3754737	0.82[CHB][hapmap]
rs3820831	0.82[CHB][hapmap]
rs7577647	0.83[ASN][1000 genomes]
rs7584891	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs7591449	0.87[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs7606330	0.87[CHB][hapmap];0.87[CHD][hapmap];0.80[ASN][1000 genomes]

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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv963967	chr2:174110161-174115011	Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
2	chr2:174083800-174119200	Weak transcription	HMEC	breast
3	chr2:174094800-174114600	Weak transcription	HUVEC	blood vessel
4	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:174096200-174118200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
7	chr2:174096600-174130800	Weak transcription	Gastric	stomach
8	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:174098200-174124000	Weak transcription	NH-A	brain
11	chr2:174098400-174125600	Weak transcription	Right Ventricle	heart
12	chr2:174098800-174124000	Weak transcription	Dnd41	blood
13	chr2:174099000-174124000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:174099400-174123600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:174099600-174120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:174099600-174123400	Weak transcription	A549	lung
17	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
18	chr2:174100400-174123400	Weak transcription	NHDF-Ad	bronchial
19	chr2:174101600-174119400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
21	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:174102400-174115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:174102800-174120800	Weak transcription	Fetal Stomach	stomach
24	chr2:174103600-174123400	Weak transcription	Osteobl	bone
25	chr2:174103800-174124000	Weak transcription	K562	blood
26	chr2:174103800-174129000	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:174104600-174117600	Weak transcription	Lung	lung
28	chr2:174105000-174133400	Weak transcription	NHLF	lung
29	chr2:174105000-174134400	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:174105200-174117800	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:174105200-174123800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:174105600-174115000	Weak transcription	Fetal Lung	lung
33	chr2:174105600-174117800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:174105600-174123600	Weak transcription	Left Ventricle	heart
35	chr2:174105800-174124000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:174106200-174122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:174106400-174114600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:174106600-174124000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:174106600-174125200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:174106800-174114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:174106800-174123400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:174106800-174123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:174106800-174124000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:174106800-174124200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:174106800-174125600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:174106800-174128400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:174107000-174125400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:174108200-174114600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:174108200-174128600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:174110000-174117000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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