Variant report

Variant	rs10179735
Chromosome Location	chr2:178196869-178196870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178127878..178129847-chr2:178194449..178197899,4	K562	blood:
2	chr2:178127258..178130407-chr2:178194593..178198613,8	MCF-7	breast:
3	chr2:178133576..178135485-chr2:178196299..178198924,2	K562	blood:
4	chr2:178029305..178030655-chr2:178196534..178197692,4	MCF-7	breast:
5	chr2:178127949..178131431-chr2:178195364..178200597,7	K562	blood:
6	chr2:178032268..178033198-chr2:178196791..178197558,2	K562	blood:
7	chr2:178028996..178029984-chr2:178196786..178197773,12	MCF-7	breast:
8	chr2:178077200..178078756-chr2:178196217..178198719,2	K562	blood:
9	chr2:178130191..178133035-chr2:178195171..178199056,3	K562	blood:
10	chr2:178196424..178198872-chr2:178498721..178501636,2	K562	blood:
11	chr2:178120521..178123745-chr2:178196706..178199533,4	K562	blood:
12	chr2:178029005..178030012-chr2:178196743..178197734,12	K562	blood:
13	chr2:178076403..178078756-chr2:178195004..178198719,3	K562	blood:
14	chr2:178128048..178131363-chr2:178195705..178200002,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000222043	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000265396	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10166244	0.91[EUR][1000 genomes]
rs10172305	1.00[ASN][1000 genomes]
rs10173008	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173159	0.91[EUR][1000 genomes]
rs10173172	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176724	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10176950	0.91[EUR][1000 genomes]
rs10179975	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs10182714	0.90[EUR][1000 genomes]
rs10196753	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196915	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207932	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs10497510	1.00[ASN][1000 genomes]
rs10930782	0.86[EUR][1000 genomes]
rs10930784	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs10930785	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]
rs10930786	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930789	1.00[ASN][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	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468046	1.00[CHD][hapmap]
rs12621156	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12623239	0.94[CEU][hapmap]
rs12693118	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693119	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987686	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12992747	0.82[EUR][1000 genomes]
rs13001890	0.94[CEU][hapmap]
rs13002088	0.94[CEU][hapmap];1.00[TSI][hapmap]
rs13011915	0.91[EUR][1000 genomes]
rs13017003	0.91[EUR][1000 genomes]
rs13017227	0.91[EUR][1000 genomes]
rs1349762	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1377491	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453369	1.00[ASN][1000 genomes]
rs1453376	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463287	1.00[ASN][1000 genomes]
rs1463288	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs1466208	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs1551287	1.00[ASN][1000 genomes]
rs1551288	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs1551289	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs1551290	1.00[ASN][1000 genomes]
rs1584806	1.00[ASN][1000 genomes]
rs1597959	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs17326999	1.00[CHD][hapmap]
rs17648502	1.00[ASN][1000 genomes]
rs1869357	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869358	0.81[EUR][1000 genomes]
rs1901828	0.94[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs1973045	1.00[ASN][1000 genomes]
rs2084966	1.00[ASN][1000 genomes]
rs2123641	1.00[ASN][1000 genomes]
rs2123643	1.00[ASN][1000 genomes]
rs2123644	1.00[ASN][1000 genomes]
rs2123645	1.00[ASN][1000 genomes]
rs2167903	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2167904	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs2178017	1.00[CHD][hapmap]
rs2364733	0.94[CEU][hapmap]
rs2364846	1.00[ASN][1000 genomes]
rs2364847	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364848	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs2364849	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2364850	1.00[ASN][1000 genomes]
rs2444563	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs2444564	1.00[ASN][1000 genomes]
rs2464655	1.00[ASN][1000 genomes]
rs2602527	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs2602528	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs2706143	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs2706144	1.00[ASN][1000 genomes]
rs2706145	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs2706146	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs2706147	0.94[CEU][hapmap]
rs2706150	1.00[ASN][1000 genomes]
rs2706153	1.00[ASN][1000 genomes]
rs2706154	1.00[ASN][1000 genomes]
rs2706155	1.00[ASN][1000 genomes]
rs2706156	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs2706157	1.00[ASN][1000 genomes]
rs2706158	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs2706162	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs2706163	1.00[ASN][1000 genomes]
rs3952496	1.00[ASN][1000 genomes]
rs4130304	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4350784	1.00[ASN][1000 genomes]
rs4893826	1.00[ASN][1000 genomes]
rs4893827	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs4893930	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4893933	1.00[ASN][1000 genomes]
rs4893955	0.86[GIH][hapmap]
rs56951837	1.00[ASN][1000 genomes]
rs6414095	0.94[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6433661	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433662	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433672	1.00[CHD][hapmap]
rs6719278	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720483	1.00[CHD][hapmap]
rs6721168	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6731409	0.82[EUR][1000 genomes]
rs6732113	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732256	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739792	1.00[ASN][1000 genomes]
rs6741974	1.00[ASN][1000 genomes]
rs6754660	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs72946169	1.00[ASN][1000 genomes]
rs7559715	0.94[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs7563082	0.90[EUR][1000 genomes]
rs7566603	1.00[ASN][1000 genomes]
rs7566686	1.00[ASN][1000 genomes]
rs7573334	1.00[ASN][1000 genomes]
rs7573583	0.94[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs7575328	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7588444	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604299	1.00[ASN][1000 genomes]
rs9288001	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs952034	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs9917333	1.00[ASN][1000 genomes]
rs9941681	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.96[LWK][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10179735	LOC100130691	cis	parietal	SCAN
rs10179735	KIAA1715	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
4	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:178190600-178202600	Weak transcription	NHDF-Ad	bronchial
6	chr2:178191000-178200400	Weak transcription	Small Intestine	intestine
7	chr2:178191600-178202800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:178192000-178201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:178192200-178200000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:178193200-178202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:178194000-178197600	Enhancers	Stomach Mucosa	stomach
12	chr2:178194000-178202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:178194600-178197800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:178195200-178213600	Weak transcription	Gastric	stomach
15	chr2:178195400-178211400	Weak transcription	Fetal Intestine Small	intestine
16	chr2:178196000-178197200	Enhancers	Primary T cells from cord blood	blood
17	chr2:178196200-178197800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:178196200-178198000	Enhancers	Ovary	ovary
19	chr2:178196400-178197200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:178196400-178197200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:178196400-178197200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:178196400-178197200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:178196400-178198000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:178196400-178198000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:178196400-178198200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:178196400-178198400	Enhancers	Liver	Liver
27	chr2:178196600-178197000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:178196600-178197000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:178196600-178197000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:178196600-178197000	Enhancers	Brain Anterior Caudate	brain
31	chr2:178196600-178197000	Enhancers	Brain Substantia Nigra	brain
32	chr2:178196600-178197200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:178196600-178197200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:178196600-178197200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:178196600-178197200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:178196600-178197200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:178196600-178197200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:178196600-178197200	Enhancers	Fetal Heart	heart
39	chr2:178196600-178197200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr2:178196600-178197200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:178196600-178197600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:178196600-178197600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:178196600-178197600	Enhancers	Fetal Intestine Large	intestine
44	chr2:178196600-178197800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:178196600-178197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr2:178196600-178197800	Enhancers	Dnd41	blood
47	chr2:178196600-178197800	Enhancers	HMEC	breast
48	chr2:178196600-178197800	Enhancers	HSMMtube	muscle
49	chr2:178196600-178197800	Enhancers	HUVEC	blood vessel
50	chr2:178196600-178197800	Enhancers	NHLF	lung

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