Variant report

Variant	rs2497701
Chromosome Location	chr10:116259379-116259380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116259184..116261676-chr10:116284926..116286674,2	MCF-7	breast:
2	chr10:116246183..116247727-chr10:116258173..116260732,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099204	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1923285	0.95[CEU][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2145896	0.87[ASN][1000 genomes]
rs2475226	0.83[ASN][1000 genomes]
rs2475228	0.80[ASN][1000 genomes]
rs2475230	1.00[CEU][hapmap];0.87[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2475232	0.83[AMR][1000 genomes]
rs2497703	0.86[ASN][1000 genomes]
rs7096193	0.91[ASN][1000 genomes]
rs9421177	0.94[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116214600-116263600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:116222200-116264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:116225000-116267200	Weak transcription	Aorta	Aorta
4	chr10:116225600-116278800	Weak transcription	HSMM	muscle
5	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
6	chr10:116249600-116264800	Weak transcription	Pancreas	Pancrea
7	chr10:116249800-116259400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:116250000-116259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:116250200-116264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:116250200-116265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:116252000-116267200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:116252200-116264800	Weak transcription	Brain Substantia Nigra	brain
13	chr10:116252400-116263800	Weak transcription	Hela-S3	cervix
14	chr10:116252600-116259400	Weak transcription	Brain Anterior Caudate	brain
15	chr10:116252600-116262800	Weak transcription	Psoas Muscle	Psoas
16	chr10:116252600-116264800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:116252600-116264800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:116252600-116264800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:116252800-116259400	Weak transcription	Right Atrium	heart
20	chr10:116253200-116259400	Weak transcription	Gastric	stomach
21	chr10:116253200-116259400	Weak transcription	Thymus	Thymus
22	chr10:116253200-116264600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:116253200-116264800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr10:116253600-116259400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:116255400-116263000	Weak transcription	Fetal Lung	lung
26	chr10:116255400-116264200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:116255400-116264600	Weak transcription	Fetal Kidney	kidney
28	chr10:116255600-116259400	Weak transcription	Esophagus	oesophagus
29	chr10:116255600-116259600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:116255800-116259400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr10:116255800-116259800	Weak transcription	HepG2	liver
32	chr10:116255800-116262600	Weak transcription	Fetal Heart	heart
33	chr10:116256000-116259400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr10:116256000-116259400	Weak transcription	HSMMtube	muscle
35	chr10:116256000-116264600	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:116256800-116263600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr10:116256800-116264600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr10:116256800-116264800	Weak transcription	Brain Hippocampus Middle	brain
39	chr10:116257000-116259400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:116257200-116259400	Weak transcription	Liver	Liver
41	chr10:116257200-116259400	Weak transcription	Ovary	ovary
42	chr10:116257600-116259400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr10:116257600-116260000	Flanking Active TSS	GM12878-XiMat	blood
44	chr10:116257600-116260400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr10:116257800-116260600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr10:116258000-116260400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:116258000-116261800	Enhancers	Small Intestine	intestine
48	chr10:116258000-116271400	Enhancers	Stomach Mucosa	stomach
49	chr10:116258200-116260000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:116258200-116261200	Enhancers	Fetal Intestine Large	intestine

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