Variant report

Variant	rs1558853
Chromosome Location	chr7:102760774-102760775
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr7:102759885-102761127	K562	blood:	n/a	n/a
2	JUN	chr7:102759950-102761614	K562	blood:	n/a	n/a
3	MYC	chr7:102760113-102760853	K562	blood:	n/a	n/a
4	TEAD4	chr7:102759822-102760780	K562	blood:	n/a	n/a
5	USF1	chr7:102760153-102760805	K562	blood:	n/a	n/a
6	BHLHE40	chr7:102760046-102760790	K562	blood:	n/a	n/a
7	RCOR1	chr7:102759920-102760780	K562	blood:	n/a	n/a
8	CCNT2	chr7:102760059-102760829	K562	blood:	n/a	n/a
9	CREB1	chr7:102759910-102760810	K562	blood:	n/a	n/a
10	CBX3	chr7:102760045-102760799	K562	blood:	n/a	n/a
11	TEAD4	chr7:102759815-102760797	K562	blood:	n/a	n/a
12	CUX1	chr7:102759976-102760825	K562	blood:	n/a	n/a
13	EP300	chr7:102759950-102760838	K562	blood:	n/a	chr7:102760719-102760727 chr7:102760000-102760010
14	PML	chr7:102759878-102760798	K562	blood:	n/a	n/a
15	NR2F2	chr7:102759786-102760804	K562	blood:	n/a	n/a
16	PML	chr7:102759987-102760826	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:102759033..102762956-chr7:102787889..102791523,5	K562	blood:
2	chr7:102714071..102718258-chr7:102757961..102760938,3	K562	blood:
3	chr7:102759379..102762894-chr7:102787802..102793821,6	K562	blood:
4	chr7:102714987..102719162-chr7:102758108..102764327,6	K562	blood:

No data

Variant related genes	Relation type
NAPEPLD	TF binding region
ENSG00000161048	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000236848	Chromatin interaction
ENSG00000170632	Chromatin interaction

Extended variants
information (count: 135 )
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	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264869	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268112	1.00[EUR][1000 genomes]
rs10268849	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808123	1.00[EUR][1000 genomes]
rs10808124	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808125	0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808126	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10808127	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10953379	0.87[AMR][1000 genomes]
rs11560367	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11760826	0.80[YRI][hapmap];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]
rs12155099	1.00[EUR][1000 genomes]
rs12539639	1.00[EUR][1000 genomes]
rs13225565	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13226097	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13242079	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13247932	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1404213	0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1477159	1.00[EUR][1000 genomes]
rs1477161	1.00[EUR][1000 genomes]
rs1477162	1.00[EUR][1000 genomes]
rs1477163	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861725	1.00[EUR][1000 genomes]
rs1861726	1.00[EUR][1000 genomes]
rs1861728	1.00[EUR][1000 genomes]
rs1861730	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs1861732	1.00[EUR][1000 genomes]
rs1968198	0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968199	0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968202	1.00[EUR][1000 genomes]
rs1974715	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1974716	1.00[EUR][1000 genomes]
rs2015289	0.82[AMR][1000 genomes];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]
rs2411078	0.86[AMR][1000 genomes]
rs2411079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411081	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411082	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898640	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3181009	0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4294127	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4295594	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4374923	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4440560	0.84[AFR][1000 genomes]
rs4530973	1.00[EUR][1000 genomes]
rs4727560	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4727561	1.00[EUR][1000 genomes]
rs4729868	1.00[EUR][1000 genomes]
rs4729869	1.00[EUR][1000 genomes]
rs4729870	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs4729871	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs4729872	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729875	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729876	1.00[EUR][1000 genomes]
rs4729878	1.00[EUR][1000 genomes]
rs4729882	0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729883	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729884	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729892	1.00[EUR][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]
rs61676871	1.00[EUR][1000 genomes]
rs62622397	1.00[EUR][1000 genomes]
rs6465891	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465892	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465893	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6465898	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465902	1.00[EUR][1000 genomes]
rs6465905	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	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946989	1.00[EUR][1000 genomes]
rs6947777	1.00[EUR][1000 genomes]
rs6950177	0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955436	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959711	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6964822	1.00[EUR][1000 genomes]
rs6966872	1.00[EUR][1000 genomes]
rs6966961	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6973702	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6973787	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976034	0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976290	1.00[EUR][1000 genomes]
rs6976794	0.90[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6977206	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979140	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979470	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];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	1.00[EUR][1000 genomes]
rs7783856	0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7784337	0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792240	0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801602	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7801969	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7807900	1.00[EUR][1000 genomes]
rs7811224	1.00[EUR][1000 genomes]
rs952521	0.82[AMR][1000 genomes]
rs9640672	1.00[EUR][1000 genomes]
rs9641307	1.00[EUR][1000 genomes]
rs9641308	1.00[EUR][1000 genomes]
rs9649256	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9649257	0.94[AFR][1000 genomes]
rs9691829	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1558853	SVH	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102716600-102762200	Weak transcription	Colonic Mucosa	Colon
2	chr7:102716600-102768200	Weak transcription	Right Ventricle	heart
3	chr7:102716800-102768400	Weak transcription	Stomach Mucosa	stomach
4	chr7:102717600-102770200	Weak transcription	Small Intestine	intestine
5	chr7:102717800-102768000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:102719400-102769600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:102724000-102770200	Weak transcription	Psoas Muscle	Psoas
8	chr7:102725200-102770200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:102725800-102770000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:102727800-102768000	Weak transcription	Fetal Brain Male	brain
11	chr7:102730200-102769600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:102734200-102770600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:102736000-102768000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:102738400-102767800	Weak transcription	Pancreas	Pancrea
15	chr7:102738400-102768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:102738400-102773600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:102738600-102761200	Weak transcription	Placenta	Placenta
18	chr7:102741400-102770600	Weak transcription	HUVEC	blood vessel
19	chr7:102743000-102761800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:102743600-102770200	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:102747200-102762600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:102747200-102768200	Weak transcription	Fetal Heart	heart
23	chr7:102747400-102766400	Weak transcription	Brain Germinal Matrix	brain
24	chr7:102747400-102781800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:102747600-102761800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:102747600-102768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:102747600-102768000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:102747600-102775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:102747600-102789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:102753200-102764800	Strong transcription	Fetal Intestine Large	intestine
31	chr7:102753400-102764000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:102753600-102761200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:102753800-102767200	Weak transcription	Hela-S3	cervix
34	chr7:102754000-102762800	Weak transcription	NH-A	brain
35	chr7:102754000-102763600	Weak transcription	A549	lung
36	chr7:102754000-102770400	Weak transcription	NHLF	lung
37	chr7:102754200-102766800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:102754200-102773600	Weak transcription	HSMMtube	muscle
39	chr7:102754400-102771800	Weak transcription	NHEK	skin
40	chr7:102755000-102766000	Strong transcription	Primary B cells from cord blood	blood
41	chr7:102755200-102770000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:102755200-102772000	Weak transcription	HMEC	breast
43	chr7:102755400-102761400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:102755400-102767200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:102755400-102768400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:102755600-102768200	Weak transcription	Osteobl	bone
47	chr7:102755600-102775400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:102755800-102767800	Weak transcription	NHDF-Ad	bronchial
49	chr7:102757000-102761000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr7:102757200-102764000	Strong transcription	Primary hematopoietic stem cells	blood

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