Variant report

Variant	rs10270
Chromosome Location	chr12:122756342-122756343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122748511..122753290-chr12:122753614..122757963,7	K562	blood:
2	chr12:122749589..122752606-chr12:122753889..122758742,5	K562	blood:
3	chr12:122461383..122462889-chr12:122756023..122758589,2	K562	blood:
4	chr12:122754913..122757093-chr12:122761269..122764385,4	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000256861	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10846470	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11061609	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12423987	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs12424872	1.00[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs12578815	0.83[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap]
rs12578953	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12809220	0.94[ASN][1000 genomes]
rs12810587	0.91[CEU][hapmap]
rs12811503	0.80[ASN][1000 genomes]
rs12814923	0.83[CEU][hapmap];0.80[CHB][hapmap];0.80[JPT][hapmap]
rs12815512	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12816499	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs12820704	0.82[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap]
rs12822121	0.81[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12824701	0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12824925	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs12825008	0.81[ASN][1000 genomes]
rs12825149	0.83[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap]
rs12825279	0.83[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12828234	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12833379	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1512023	0.85[JPT][hapmap]
rs2063510	0.83[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2068223	0.83[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap]
rs2271408	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs2271409	0.83[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2277332	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277333	0.81[ASN][1000 genomes]
rs34325222	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34383196	0.81[ASN][1000 genomes]
rs35030971	0.81[ASN][1000 genomes]
rs35772530	0.81[ASN][1000 genomes]
rs35963777	0.81[ASN][1000 genomes]
rs3782153	0.82[ASN][1000 genomes]
rs3782154	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809116	0.83[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4567503	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758649	0.83[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4758650	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758670	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758671	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55741463	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59734396	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6488876	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7298397	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7388	0.84[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7957569	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7962385	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7963144	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7963565	1.00[CEU][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7964911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965868	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7970027	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7972228	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs872451	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs907482	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs907483	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9668064	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751400-122757400	Weak transcription	Spleen	Spleen
2	chr12:122751600-122757200	Weak transcription	Gastric	stomach
3	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122751800-122757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:122751800-122757200	Weak transcription	Ovary	ovary
6	chr12:122751800-122757400	Weak transcription	Esophagus	oesophagus
7	chr12:122751800-122757400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:122751800-122760400	Weak transcription	Pancreas	Pancrea
9	chr12:122751800-122760800	Weak transcription	Aorta	Aorta
10	chr12:122751800-122762800	Weak transcription	Psoas Muscle	Psoas
11	chr12:122751800-122762800	Weak transcription	Small Intestine	intestine
12	chr12:122752000-122756600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:122752000-122756800	Weak transcription	Brain Angular Gyrus	brain
14	chr12:122752000-122756800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:122752000-122756800	Weak transcription	Colonic Mucosa	Colon
16	chr12:122752000-122756800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:122752000-122756800	Weak transcription	Fetal Intestine Large	intestine
18	chr12:122752000-122756800	Weak transcription	NHDF-Ad	bronchial
19	chr12:122752000-122756800	Weak transcription	NHEK	skin
20	chr12:122752000-122757000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:122752000-122757000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:122752000-122757000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:122752000-122757000	Weak transcription	Fetal Brain Female	brain
24	chr12:122752000-122757000	Weak transcription	HSMMtube	muscle
25	chr12:122752000-122757200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:122752000-122757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:122752000-122757200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:122752000-122757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:122752000-122757200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:122752000-122757200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:122752000-122757200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:122752000-122757200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:122752000-122757200	Weak transcription	Right Ventricle	heart
34	chr12:122752000-122757200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:122752000-122757200	Weak transcription	GM12878-XiMat	blood
36	chr12:122752000-122757200	Weak transcription	HMEC	breast
37	chr12:122752000-122757200	Weak transcription	NHLF	lung
38	chr12:122752000-122757400	Weak transcription	Primary T cells from cord blood	blood
39	chr12:122752000-122757400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:122752000-122757400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:122752000-122761400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:122752000-122761400	Weak transcription	HepG2	liver
43	chr12:122752000-122762600	Weak transcription	Fetal Lung	lung
44	chr12:122752000-122762800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:122752000-122762800	Weak transcription	K562	blood
46	chr12:122752000-122763000	Weak transcription	Brain Substantia Nigra	brain
47	chr12:122752000-122764000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:122752000-122764000	Weak transcription	Fetal Heart	heart
49	chr12:122752000-122764200	Weak transcription	Stomach Mucosa	stomach
50	chr12:122752000-122766400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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