Variant report

Variant	rs11760826
Chromosome Location	chr7:102791811-102791812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr7:102791501-102792077	MCF-7	breast:	n/a	n/a
2	ZNF217	chr7:102791585-102791843	MCF-7	breast:	n/a	n/a
3	NR2F2	chr7:102791435-102792000	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102759379..102762894-chr7:102787802..102793821,6	K562	blood:
2	chr7:102790144..102791929-chr7:102937725..102939474,2	MCF-7	breast:
3	chr7:102713709..102715211-chr7:102789642..102791984,2	K562	blood:
4	chr7:102714022..102717631-chr7:102788669..102792237,6	MCF-7	breast:

No data

Variant related genes	Relation type
NAPEPLD	TF binding region
ENSG00000170632	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000105819	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10229137	1.00[EUR][1000 genomes]
rs10230292	1.00[EUR][1000 genomes]
rs10240086	1.00[EUR][1000 genomes]
rs10260344	1.00[EUR][1000 genomes]
rs10264869	1.00[EUR][1000 genomes]
rs10268112	1.00[EUR][1000 genomes]
rs10268849	1.00[EUR][1000 genomes]
rs10273883	1.00[EUR][1000 genomes]
rs10808123	1.00[EUR][1000 genomes]
rs10808124	1.00[EUR][1000 genomes]
rs10808125	1.00[EUR][1000 genomes]
rs10808127	1.00[EUR][1000 genomes]
rs11560367	1.00[EUR][1000 genomes]
rs11765948	1.00[EUR][1000 genomes]
rs11772979	1.00[EUR][1000 genomes]
rs11773883	1.00[EUR][1000 genomes]
rs11981558	1.00[EUR][1000 genomes]
rs12154780	0.87[AFR][1000 genomes]
rs12155099	1.00[EUR][1000 genomes]
rs12539639	1.00[EUR][1000 genomes]
rs13225565	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs13226097	1.00[EUR][1000 genomes]
rs13229230	0.87[AFR][1000 genomes]
rs13229368	0.87[AFR][1000 genomes]
rs13237057	0.87[AFR][1000 genomes]
rs13242079	1.00[EUR][1000 genomes]
rs13247932	1.00[EUR][1000 genomes]
rs1404213	1.00[EUR][1000 genomes]
rs1477159	1.00[EUR][1000 genomes]
rs1477161	1.00[EUR][1000 genomes]
rs1477162	1.00[EUR][1000 genomes]
rs1477163	1.00[EUR][1000 genomes]
rs1558853	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs1861725	0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861726	1.00[EUR][1000 genomes]
rs1861728	1.00[EUR][1000 genomes]
rs1861730	1.00[EUR][1000 genomes]
rs1861732	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968198	1.00[EUR][1000 genomes]
rs1968199	1.00[EUR][1000 genomes]
rs1968202	1.00[EUR][1000 genomes]
rs1968203	0.84[AFR][1000 genomes]
rs1968204	0.87[AFR][1000 genomes]
rs1974715	1.00[EUR][1000 genomes]
rs1974716	1.00[EUR][1000 genomes]
rs2015289	1.00[EUR][1000 genomes]
rs2041949	1.00[EUR][1000 genomes]
rs2098447	1.00[EUR][1000 genomes]
rs2111381	1.00[EUR][1000 genomes]
rs2193418	1.00[EUR][1000 genomes]
rs2411079	1.00[EUR][1000 genomes]
rs2411081	1.00[EUR][1000 genomes]
rs2411082	1.00[EUR][1000 genomes]
rs2898640	1.00[EUR][1000 genomes]
rs3181009	1.00[EUR][1000 genomes]
rs3987937	0.85[AFR][1000 genomes]
rs4295594	1.00[EUR][1000 genomes]
rs4360229	0.82[AFR][1000 genomes]
rs4428604	0.87[AFR][1000 genomes]
rs4480047	0.87[AFR][1000 genomes]
rs4523183	0.87[AFR][1000 genomes]
rs4530973	1.00[EUR][1000 genomes]
rs4727560	1.00[EUR][1000 genomes]
rs4727561	1.00[EUR][1000 genomes]
rs4729868	1.00[EUR][1000 genomes]
rs4729869	1.00[EUR][1000 genomes]
rs4729870	1.00[EUR][1000 genomes]
rs4729871	1.00[EUR][1000 genomes]
rs4729872	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs4729875	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs4729876	1.00[EUR][1000 genomes]
rs4729878	1.00[EUR][1000 genomes]
rs4729882	1.00[EUR][1000 genomes]
rs4729883	1.00[EUR][1000 genomes]
rs4729884	1.00[EUR][1000 genomes]
rs4729892	1.00[EUR][1000 genomes]
rs5025411	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs56938507	1.00[EUR][1000 genomes]
rs59179196	1.00[EUR][1000 genomes]
rs59182081	1.00[EUR][1000 genomes]
rs60006777	1.00[EUR][1000 genomes]
rs61187383	1.00[EUR][1000 genomes]
rs62622397	1.00[EUR][1000 genomes]
rs6465891	1.00[EUR][1000 genomes]
rs6465892	1.00[EUR][1000 genomes]
rs6465898	1.00[EUR][1000 genomes]
rs6465902	1.00[EUR][1000 genomes]
rs6465905	0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465907	1.00[EUR][1000 genomes]
rs6465911	1.00[EUR][1000 genomes]
rs6944809	1.00[EUR][1000 genomes]
rs6945578	1.00[EUR][1000 genomes]
rs6946968	1.00[EUR][1000 genomes]
rs6946989	1.00[EUR][1000 genomes]
rs6947777	1.00[EUR][1000 genomes]
rs6950177	1.00[EUR][1000 genomes]
rs6955436	1.00[EUR][1000 genomes]
rs6959711	1.00[EUR][1000 genomes]
rs6964822	1.00[EUR][1000 genomes]
rs6966872	1.00[EUR][1000 genomes]
rs6966961	1.00[EUR][1000 genomes]
rs6973702	1.00[EUR][1000 genomes]
rs6973787	1.00[EUR][1000 genomes]
rs6976034	1.00[EUR][1000 genomes]
rs6976290	1.00[EUR][1000 genomes]
rs6976794	1.00[EUR][1000 genomes]
rs6977206	1.00[EUR][1000 genomes]
rs6979140	1.00[EUR][1000 genomes]
rs6979470	1.00[EUR][1000 genomes]
rs73408251	1.00[EUR][1000 genomes]
rs73408254	1.00[EUR][1000 genomes]
rs73408255	1.00[EUR][1000 genomes]
rs73408259	1.00[EUR][1000 genomes]
rs73408285	1.00[EUR][1000 genomes]
rs73408286	1.00[EUR][1000 genomes]
rs73410119	1.00[EUR][1000 genomes]
rs73410129	1.00[EUR][1000 genomes]
rs73410143	1.00[EUR][1000 genomes]
rs73412168	1.00[EUR][1000 genomes]
rs73412171	1.00[EUR][1000 genomes]
rs73412175	1.00[EUR][1000 genomes]
rs7349957	1.00[EUR][1000 genomes]
rs7350051	1.00[EUR][1000 genomes]
rs7782147	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7783856	1.00[EUR][1000 genomes]
rs7784337	1.00[EUR][1000 genomes]
rs7792240	1.00[EUR][1000 genomes]
rs7804020	0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs7811224	1.00[EUR][1000 genomes]
rs9640672	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9641307	1.00[EUR][1000 genomes]
rs9641308	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9691829	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv966872	chr7:102791751-102798505	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11760826	SVH	cis	multi-tissue	Pritchard

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102790200-102792400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:102790200-102793600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:102790200-102793600	Enhancers	HepG2	liver
4	chr7:102790200-102803200	Weak transcription	Gastric	stomach
5	chr7:102790400-102792000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:102790400-102792200	Enhancers	Small Intestine	intestine
7	chr7:102790400-102793000	Weak transcription	Aorta	Aorta
8	chr7:102790400-102793400	Weak transcription	Right Atrium	heart
9	chr7:102790400-102793600	Enhancers	Fetal Intestine Small	intestine
10	chr7:102790400-102794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:102790400-102794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:102790400-102796800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:102790600-102792600	Enhancers	Stomach Mucosa	stomach
14	chr7:102790600-102793200	Enhancers	Liver	Liver
15	chr7:102790800-102792200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:102790800-102795600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:102790800-102795800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:102790800-102795800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:102790800-102796200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:102791000-102792200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:102791000-102792200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:102791000-102792400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:102791000-102792400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:102791000-102794000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:102791000-102795600	Weak transcription	Brain Substantia Nigra	brain
26	chr7:102791000-102795800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:102791000-102795800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr7:102791000-102795800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:102791000-102796200	Weak transcription	Spleen	Spleen
30	chr7:102791200-102794000	Weak transcription	GM12878-XiMat	blood
31	chr7:102791200-102794200	Enhancers	Fetal Intestine Large	intestine
32	chr7:102791200-102794800	Enhancers	K562	blood
33	chr7:102791400-102793000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:102791400-102793200	Weak transcription	Colonic Mucosa	Colon
35	chr7:102791600-102792400	Weak transcription	Brain Anterior Caudate	brain
36	chr7:102791800-102792000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:102791800-102792200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:102791800-102792400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr7:102791800-102792600	Enhancers	Brain Hippocampus Middle	brain

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