Variant report

Variant	rs10930785
Chromosome Location	chr2:178193780-178193781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178193614..178195884-chr2:178197245..178198931,2	K562	blood:
2	chr2:178127296..178131076-chr2:178188144..178194179,6	MCF-7	breast:
3	chr2:178082138..178084856-chr2:178193629..178195873,2	K562	blood:
4	chr2:178192691..178195297-chr2:178200068..178202919,2	K562	blood:
5	chr2:178129430..178133287-chr2:178190685..178195050,5	K562	blood:
6	chr2:178187336..178189064-chr2:178191251..178194155,2	K562	blood:

Variant related genes	Relation type
ENSG00000222043	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000213963	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10166244	0.91[EUR][1000 genomes]
rs10173008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10173159	0.91[EUR][1000 genomes]
rs10173172	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10176724	0.85[GIH][hapmap]
rs10176950	0.91[EUR][1000 genomes]
rs10179735	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10179975	1.00[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs10182714	0.90[EUR][1000 genomes]
rs10184488	0.85[GIH][hapmap]
rs10196753	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10196915	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10207932	1.00[CEU][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs10497509	0.85[GIH][hapmap]
rs10930782	0.86[EUR][1000 genomes]
rs10930784	1.00[CEU][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs10930786	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11674864	0.86[EUR][1000 genomes]
rs11681133	0.91[EUR][1000 genomes]
rs11692099	0.91[EUR][1000 genomes]
rs11692146	0.91[EUR][1000 genomes]
rs11889478	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12468046	0.85[GIH][hapmap]
rs12621156	0.84[GIH][hapmap]
rs12623239	0.94[CEU][hapmap]
rs12693118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12693119	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12987686	1.00[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs12992747	0.82[EUR][1000 genomes]
rs13001890	0.94[CEU][hapmap]
rs13002088	0.94[CEU][hapmap];0.88[TSI][hapmap]
rs13011915	0.91[EUR][1000 genomes]
rs13017003	0.91[EUR][1000 genomes]
rs13017227	0.91[EUR][1000 genomes]
rs1377491	0.94[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs1453376	0.94[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1463288	0.94[CEU][hapmap]
rs1466208	0.94[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs1551288	0.94[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs1551289	0.94[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs1597959	0.94[CEU][hapmap]
rs17326999	0.85[GIH][hapmap]
rs1869357	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1869358	0.81[EUR][1000 genomes]
rs1901828	0.94[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2167902	0.85[GIH][hapmap]
rs2167904	0.94[CEU][hapmap]
rs2178017	0.85[GIH][hapmap]
rs2364733	0.94[CEU][hapmap]
rs2364847	1.00[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2364848	1.00[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs2364851	0.84[GIH][hapmap]
rs2444563	0.89[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2602527	0.94[CEU][hapmap]
rs2602528	0.94[CEU][hapmap]
rs2706143	0.94[CEU][hapmap]
rs2706145	0.94[CEU][hapmap]
rs2706146	0.94[CEU][hapmap]
rs2706147	0.94[CEU][hapmap]
rs2706156	0.94[CEU][hapmap]
rs2706158	0.92[CEU][hapmap]
rs2706162	0.94[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs3754989	0.85[GIH][hapmap]
rs4130304	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4350784	0.85[GIH][hapmap]
rs4402804	0.85[GIH][hapmap]
rs4893827	0.85[GIH][hapmap]
rs4893930	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4893955	0.85[GIH][hapmap]
rs6414095	0.94[CEU][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs6433661	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6433662	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6719278	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6720483	0.85[GIH][hapmap]
rs6721168	0.85[GIH][hapmap]
rs6731409	0.82[EUR][1000 genomes]
rs6732113	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6732256	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6754660	0.85[GIH][hapmap]
rs7559715	0.94[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs7563082	0.90[EUR][1000 genomes]
rs7573583	0.94[CEU][hapmap];0.83[TSI][hapmap]
rs7575328	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7588049	0.84[GIH][hapmap]
rs7588444	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7594073	0.85[GIH][hapmap]
rs7604299	0.85[GIH][hapmap]
rs7608135	0.85[GIH][hapmap]
rs9288001	0.85[GIH][hapmap]
rs952034	0.94[CEU][hapmap]
rs9941681	0.85[ASW][hapmap];0.94[CEU][hapmap];0.92[GIH][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][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	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178160800-178196200	Weak transcription	Ovary	ovary
2	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:178179200-178196600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:178179800-178196800	Weak transcription	Fetal Brain Female	brain
5	chr2:178179800-178196800	Weak transcription	Osteobl	bone
6	chr2:178180400-178196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:178180800-178196400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:178182400-178196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:178182800-178196600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:178184000-178196400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:178184400-178196600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:178184800-178196800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:178187000-178194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:178187400-178196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:178187400-178196800	Weak transcription	Esophagus	oesophagus
16	chr2:178187600-178195000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:178187600-178196400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:178187600-178196800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:178187800-178196600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:178187800-178196600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:178187800-178196600	Weak transcription	Brain Anterior Caudate	brain
23	chr2:178187800-178196600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:178187800-178196800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
26	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:178188000-178194400	Weak transcription	Gastric	stomach
28	chr2:178188000-178196400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:178188000-178196400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:178188000-178196600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:178188000-178196600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:178188000-178196600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:178188000-178196800	Weak transcription	Primary B cells from cord blood	blood
34	chr2:178188000-178196800	Weak transcription	Adipose Nuclei	Adipose
35	chr2:178188000-178196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:178188000-178196800	Weak transcription	Fetal Stomach	stomach
37	chr2:178188000-178196800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:178188200-178196400	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:178188200-178196600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:178190400-178194000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:178190600-178202600	Weak transcription	NHDF-Ad	bronchial
42	chr2:178191000-178196400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:178191000-178196600	Weak transcription	Fetal Heart	heart
44	chr2:178191000-178196600	Weak transcription	HSMM	muscle
45	chr2:178191000-178200400	Weak transcription	Small Intestine	intestine
46	chr2:178191200-178194400	Weak transcription	HepG2	liver
47	chr2:178191200-178194600	Weak transcription	Liver	Liver
48	chr2:178191200-178195000	Weak transcription	Colonic Mucosa	Colon
49	chr2:178191200-178196600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:178191200-178196600	Weak transcription	Rectal Mucosa Donor 31	rectum

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