Variant report

Variant	rs7787807
Chromosome Location	chr7:139433190-139433191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139429823..139431381-chr7:139432354..139435137,2	K562	blood:
2	chr7:139422952..139425133-chr7:139431393..139433513,2	MCF-7	breast:
3	chr7:139431432..139433625-chr7:139434352..139436419,2	K562	blood:
4	chr7:139431507..139433751-chr7:139471496..139473162,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1015121	0.96[EUR][1000 genomes]
rs10224408	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10230692	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10254826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268753	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10278124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1106768	0.90[EUR][1000 genomes]
rs12155449	0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs12374779	0.96[EUR][1000 genomes]
rs12374780	0.95[EUR][1000 genomes]
rs17177103	0.96[EUR][1000 genomes]
rs17177358	0.96[EUR][1000 genomes]
rs17177953	0.82[CEU][hapmap];0.90[GIH][hapmap];0.88[TSI][hapmap]
rs17262390	0.96[EUR][1000 genomes]
rs17262662	0.92[EUR][1000 genomes]
rs17262676	0.81[CEU][hapmap];0.92[EUR][1000 genomes]
rs4074826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4074827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56079671	0.85[EUR][1000 genomes]
rs56840127	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61054086	0.96[EUR][1000 genomes]
rs6967634	0.96[EUR][1000 genomes]
rs73158611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73158613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158614	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73158616	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740818	0.94[EUR][1000 genomes]
rs7793114	0.96[EUR][1000 genomes]
rs7798740	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7787807	LOC730441	cis	parietal	SCAN
rs7787807	TBXAS1	cis	parietal	SCAN
rs7787807	RAB19	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139414600-139437600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:139417200-139433200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:139427600-139438200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:139428400-139437200	Weak transcription	Fetal Intestine Small	intestine
5	chr7:139429000-139434600	Enhancers	Right Atrium	heart
6	chr7:139429000-139435600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:139429200-139434600	Enhancers	Left Ventricle	heart
8	chr7:139429600-139434600	Enhancers	Pancreas	Pancrea
9	chr7:139430000-139435400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:139430400-139433200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:139430400-139439600	Enhancers	Adipose Nuclei	Adipose
12	chr7:139430600-139433800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:139430600-139434600	Enhancers	Right Ventricle	heart
14	chr7:139430600-139438400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:139430800-139433600	Weak transcription	Ovary	ovary
16	chr7:139431200-139435400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:139431600-139440200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr7:139431800-139433800	Enhancers	Fetal Heart	heart
19	chr7:139431800-139435600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:139432000-139433200	Enhancers	Lung	lung
21	chr7:139432000-139433400	Enhancers	HSMM	muscle
22	chr7:139432000-139435000	Weak transcription	Primary B cells from cord blood	blood
23	chr7:139432000-139435200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:139432000-139435200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:139432000-139435400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:139432000-139436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:139432000-139438400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:139432000-139439200	Enhancers	Stomach Mucosa	stomach
29	chr7:139432200-139433400	Weak transcription	GM12878-XiMat	blood
30	chr7:139432200-139434200	Enhancers	Aorta	Aorta
31	chr7:139432200-139434600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:139432200-139436600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:139432200-139437400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:139432200-139461800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:139432400-139433400	Weak transcription	Brain Angular Gyrus	brain
36	chr7:139432400-139433400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:139432400-139433400	Weak transcription	HSMMtube	muscle
38	chr7:139432400-139433600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:139432400-139433600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:139432400-139433600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:139432400-139433600	Weak transcription	Brain Anterior Caudate	brain
42	chr7:139432400-139433600	Weak transcription	Esophagus	oesophagus
43	chr7:139432400-139433600	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:139432400-139433600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:139432400-139433600	Weak transcription	Spleen	Spleen
46	chr7:139432400-139433600	Weak transcription	HepG2	liver
47	chr7:139432400-139433600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:139432400-139433600	Weak transcription	NHLF	lung
49	chr7:139432400-139433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:139432400-139433800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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