Variant report

Variant	rs7781470
Chromosome Location	chr7:117433621-117433622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:117433569-117433656	Gliobla	brain:	n/a	n/a
2	BHLHE40	chr7:117433523-117433690	K562	blood:	n/a	n/a
3	CTCF	chr7:117433580-117433730	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:117429273-117432820..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo
2	7:116610596-116619447..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
CTTNBP2	TF binding region
ENSG00000077063	Chromatin interaction
ENSG00000213050	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10227037	1.00[ASN][1000 genomes]
rs10231200	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235887	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249282	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249647	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250116	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258876	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277715	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279510	1.00[ASN][1000 genomes]
rs10487375	0.85[TSI][hapmap]
rs10953849	0.86[TSI][hapmap]
rs11505934	1.00[ASN][1000 genomes]
rs11767812	0.86[TSI][hapmap]
rs17140401	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140426	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140428	1.00[ASN][1000 genomes]
rs28403532	1.00[ASN][1000 genomes]
rs28458827	1.00[ASN][1000 genomes]
rs28460732	1.00[ASN][1000 genomes]
rs28491601	1.00[ASN][1000 genomes]
rs28626909	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28744472	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34090296	1.00[ASN][1000 genomes]
rs34128994	1.00[ASN][1000 genomes]
rs34184681	1.00[ASN][1000 genomes]
rs34242801	1.00[ASN][1000 genomes]
rs34338088	1.00[ASN][1000 genomes]
rs34469059	1.00[ASN][1000 genomes]
rs34491454	1.00[ASN][1000 genomes]
rs34505144	1.00[ASN][1000 genomes]
rs34680574	1.00[ASN][1000 genomes]
rs34739284	1.00[ASN][1000 genomes]
rs34782757	1.00[ASN][1000 genomes]
rs34844482	1.00[ASN][1000 genomes]
rs35160894	1.00[ASN][1000 genomes]
rs35191087	1.00[ASN][1000 genomes]
rs35280089	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309708	1.00[ASN][1000 genomes]
rs35349079	1.00[ASN][1000 genomes]
rs35410407	1.00[ASN][1000 genomes]
rs35441392	1.00[ASN][1000 genomes]
rs35492426	1.00[ASN][1000 genomes]
rs35522360	1.00[ASN][1000 genomes]
rs35618845	1.00[ASN][1000 genomes]
rs35714028	1.00[ASN][1000 genomes]
rs35720191	1.00[ASN][1000 genomes]
rs35731674	1.00[ASN][1000 genomes]
rs35774527	1.00[ASN][1000 genomes]
rs35813124	1.00[ASN][1000 genomes]
rs35838987	1.00[ASN][1000 genomes]
rs35894760	1.00[ASN][1000 genomes]
rs35918397	1.00[ASN][1000 genomes]
rs35997432	1.00[ASN][1000 genomes]
rs36011009	1.00[ASN][1000 genomes]
rs36036225	1.00[ASN][1000 genomes]
rs6466623	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs6946763	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954037	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962570	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971495	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6977929	1.00[CEU][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781185	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800765	1.00[ASN][1000 genomes]
rs916931	0.86[TSI][hapmap]
rs9969206	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.96[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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7781470	ST7	cis	parietal	SCAN
rs7781470	MDFIC	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:117401400-117434000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:117421400-117444400	Weak transcription	Fetal Heart	heart
4	chr7:117428400-117448600	Weak transcription	Fetal Kidney	kidney
5	chr7:117431400-117433800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:117431600-117433800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:117431800-117447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:117432000-117433800	Strong transcription	Esophagus	oesophagus
9	chr7:117432200-117453000	Weak transcription	Aorta	Aorta
10	chr7:117432400-117434000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:117432400-117434800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:117432400-117437000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:117432400-117447600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:117432400-117447800	Weak transcription	Brain Germinal Matrix	brain
15	chr7:117432600-117434800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:117432600-117436800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:117432600-117437000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:117432600-117437200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:117432600-117437200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:117432600-117437200	Weak transcription	Fetal Brain Male	brain
21	chr7:117432600-117446000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:117432600-117446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:117432600-117447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:117432600-117447800	Weak transcription	Fetal Lung	lung
25	chr7:117432600-117448800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:117432800-117433800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:117432800-117434400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:117432800-117434400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:117432800-117434400	Enhancers	K562	blood
30	chr7:117432800-117434600	Weak transcription	Ovary	ovary
31	chr7:117432800-117435800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:117432800-117437000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:117432800-117437000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:117432800-117441000	Weak transcription	NHLF	lung
35	chr7:117432800-117445200	Weak transcription	Fetal Brain Female	brain
36	chr7:117432800-117446000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:117432800-117447600	Weak transcription	Adipose Nuclei	Adipose
38	chr7:117432800-117448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:117432800-117451800	Weak transcription	Fetal Stomach	stomach
40	chr7:117433000-117437000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:117433000-117440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:117433200-117435800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:117433400-117433800	Enhancers	GM12878-XiMat	blood
44	chr7:117433400-117434000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:117433400-117434200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:117433400-117434200	Enhancers	Brain Angular Gyrus	brain
47	chr7:117433400-117434400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:117433400-117434400	Enhancers	HMEC	breast
49	chr7:117433400-117434400	Enhancers	NHEK	skin
50	chr7:117433400-117434600	Enhancers	Brain Inferior Temporal Lobe	brain

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