Variant report

Variant	rs6465905
Chromosome Location	chr7:102787135-102787136
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:102787056-102787302	K562	blood:	n/a	n/a
2	UBTF	chr7:102787113-102787325	K562	blood:	n/a	n/a
3	EP300	chr7:102787067-102787202	K562	blood:	n/a	n/a
4	MAFK	chr7:102787065-102787286	K562	blood:	n/a	n/a
5	IRF1	chr7:102787033-102787465	K562	blood:	n/a	n/a
6	MYC	chr7:102786727-102787263	K562	blood:	n/a	n/a
7	CHD2	chr7:102787014-102787217	K562	blood:	n/a	n/a
8	CEBPB	chr7:102786975-102787136	K562	blood:	n/a	n/a
9	KAP1	chr7:102786549-102787307	HEK293	kidney:	n/a	n/a
10	JUND	chr7:102787050-102787256	K562	blood:	n/a	n/a
11	RCOR1	chr7:102787050-102787154	K562	blood:	n/a	n/a
12	MAFF	chr7:102786920-102787293	K562	blood:	n/a	n/a
13	BHLHE40	chr7:102787017-102787266	K562	blood:	n/a	n/a
14	RCOR1	chr7:102786916-102787343	K562	blood:	n/a	n/a
15	UBTF	chr7:102787048-102787247	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102780818..102786371-chr7:102786977..102791342,10	K562	blood:
2	chr7:102781326..102784707-chr7:102785831..102787592,3	MCF-7	breast:

No data

Variant related genes	Relation type
RPL19P12	TF binding region
ENSG00000224415	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

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]
rs11760826	0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];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	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12155099	1.00[EUR][1000 genomes]
rs12539639	1.00[EUR][1000 genomes]
rs13225565	1.00[EUR][1000 genomes]
rs13226097	1.00[EUR][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	1.00[EUR][1000 genomes]
rs1861725	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968198	1.00[EUR][1000 genomes]
rs1968199	1.00[EUR][1000 genomes]
rs1968202	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968203	0.86[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	0.87[AFR][1000 genomes]
rs4295594	1.00[EUR][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	0.82[LWK][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs4729875	0.85[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	0.81[YRI][hapmap];0.84[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]
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	0.96[AFR][1000 genomes];1.00[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	0.84[LWK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs7811224	1.00[EUR][1000 genomes]
rs9640672	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9641307	1.00[EUR][1000 genomes]
rs9641308	0.92[AFR][1000 genomes];1.00[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	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6465905	SVH	cis	multi-tissue	Pritchard

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102747600-102789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:102768800-102788600	Weak transcription	Right Ventricle	heart
3	chr7:102769200-102787200	Weak transcription	Adipose Nuclei	Adipose
4	chr7:102769200-102787800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:102769200-102788200	Weak transcription	Primary B cells from cord blood	blood
6	chr7:102769200-102788400	Weak transcription	Thymus	Thymus
7	chr7:102771000-102788800	Weak transcription	Small Intestine	intestine
8	chr7:102774000-102788600	Weak transcription	HSMMtube	muscle
9	chr7:102774200-102788600	Weak transcription	Psoas Muscle	Psoas
10	chr7:102776000-102787200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:102776000-102787200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:102776200-102788400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:102776600-102787600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:102781600-102787800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:102782200-102788600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:102782400-102787200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:102782400-102789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:102782400-102789200	Weak transcription	Gastric	stomach
19	chr7:102782600-102788400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:102782800-102787800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:102782800-102788400	Weak transcription	HSMM	muscle
22	chr7:102782800-102789200	Weak transcription	Spleen	Spleen
23	chr7:102783400-102787200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:102783400-102787600	Weak transcription	A549	lung
25	chr7:102784000-102788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:102784200-102787200	Weak transcription	HUVEC	blood vessel
27	chr7:102785200-102787400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:102786000-102790200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:102786200-102787200	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr7:102786200-102787800	Enhancers	Fetal Heart	heart
31	chr7:102786200-102790400	Active TSS	Brain Hippocampus Middle	brain
32	chr7:102786200-102790400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:102786200-102790400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:102786400-102787200	Flanking Active TSS	Fetal Brain Female	brain
35	chr7:102786400-102790200	Active TSS	Aorta	Aorta
36	chr7:102786400-102790200	Active TSS	Brain Cingulate Gyrus	brain
37	chr7:102786600-102787200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:102786600-102787200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:102786600-102787200	Enhancers	Esophagus	oesophagus
40	chr7:102786600-102787200	Flanking Active TSS	Fetal Brain Male	brain
41	chr7:102786600-102787200	Enhancers	Lung	lung
42	chr7:102786600-102787400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:102786600-102787400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:102786600-102787400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr7:102786600-102787400	Enhancers	Fetal Muscle Leg	muscle
46	chr7:102786600-102787400	Enhancers	Left Ventricle	heart
47	chr7:102786600-102787400	Enhancers	Pancreas	Pancrea
48	chr7:102786600-102787600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:102786600-102787600	Active TSS	Rectal Smooth Muscle	rectum
50	chr7:102786600-102787800	Enhancers	H1 Cell Line	embryonic stem cell

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