Variant report

Variant	rs2497708
Chromosome Location	chr10:116281550-116281551
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:116279356..116283569-chr10:116284064..116286788,6	MCF-7	breast:
2	chr10:116257493..116259296-chr10:116279810..116281846,2	MCF-7	breast:
3	chr10:116274510..116277098-chr10:116279829..116282526,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099204	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10885575	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs11196775	0.82[CEU][hapmap]
rs11196780	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs11196781	0.94[CHB][hapmap]
rs12569428	0.94[JPT][hapmap]
rs2145893	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145894	0.83[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2247528	0.80[JPT][hapmap]
rs2475239	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2475240	0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2475241	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs2475242	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs2483571	0.81[JPT][hapmap]
rs2483585	0.86[JPT][hapmap]
rs2483587	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs2483595	0.83[JPT][hapmap]
rs2483596	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs2497710	0.94[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs2497717	0.81[JPT][hapmap]
rs2497718	0.81[JPT][hapmap]
rs2497719	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs2497721	0.81[JPT][hapmap]
rs6585285	0.85[CEU][hapmap]
rs883768	0.88[CHD][hapmap];0.81[JPT][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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2497708	CORIN	trans	parietal	SCAN
rs2497708	ABLIM1	cis	lymphoblastoid	seeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
2	chr10:116268200-116281600	Weak transcription	Brain Anterior Caudate	brain
3	chr10:116270600-116283000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:116275400-116281600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr10:116275400-116283000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:116275800-116283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:116276600-116284600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:116276800-116283400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:116277000-116281600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:116277000-116283800	Weak transcription	Fetal Stomach	stomach
11	chr10:116277200-116281600	Weak transcription	Gastric	stomach
12	chr10:116277200-116281800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:116277200-116284600	Weak transcription	Brain Angular Gyrus	brain
14	chr10:116277800-116281600	Weak transcription	Brain Substantia Nigra	brain
15	chr10:116277800-116284600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr10:116278200-116284600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr10:116278600-116281800	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr10:116278600-116282800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:116278600-116282800	Enhancers	Fetal Lung	lung
20	chr10:116278600-116283200	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr10:116278800-116281800	Enhancers	Fetal Intestine Large	intestine
22	chr10:116278800-116284600	Enhancers	Primary hematopoietic stem cells	blood
23	chr10:116278800-116284600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr10:116278800-116285000	Genic enhancers	Left Ventricle	heart
25	chr10:116279200-116281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:116279200-116281600	Weak transcription	Primary B cells from cord blood	blood
27	chr10:116279400-116281600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:116279400-116283800	Enhancers	Right Ventricle	heart
29	chr10:116279400-116285800	Weak transcription	Psoas Muscle	Psoas
30	chr10:116279600-116281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:116279800-116283000	Weak transcription	Esophagus	oesophagus
32	chr10:116279800-116284600	Weak transcription	Aorta	Aorta
33	chr10:116279800-116284800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:116279800-116286000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr10:116280000-116281600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr10:116280000-116281800	Weak transcription	Adipose Nuclei	Adipose
37	chr10:116280000-116282400	Weak transcription	Lung	lung
38	chr10:116280000-116282400	Enhancers	HepG2	liver
39	chr10:116280000-116283600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr10:116280000-116286200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr10:116280000-116286200	Weak transcription	Pancreas	Pancrea
42	chr10:116280200-116281600	Weak transcription	Fetal Muscle Leg	muscle
43	chr10:116280200-116281800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:116280200-116282200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:116280200-116282200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:116280200-116283400	Enhancers	Stomach Mucosa	stomach
47	chr10:116280200-116283600	Weak transcription	HSMMtube	muscle
48	chr10:116280200-116283800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr10:116280200-116283800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr10:116280200-116284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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