Variant report

Variant	rs11770520
Chromosome Location	chr7:150744922-150744923
allele	A/G
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	chr7:150742963-150746735	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:150744823-150745168	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:150743166-150745376	PBDE	blood:	n/a	n/a
4	POLR2A	chr7:150742860-150745890	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr7:150743154-150745571	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr7:150743582-150745819	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:150742819-150746720	K562	blood:	n/a	n/a
8	POLR2A	chr7:150743498-150744956	U87	brain:	n/a	n/a
9	POLR2A	chr7:150742898-150745711	K562	blood:	n/a	n/a
10	POLR2A	chr7:150744183-150745842	A549	lung:	n/a	n/a
11	POLR2A	chr7:150744901-150745810	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150743382..150745288-chr7:151545061..151547871,2	MCF-7	breast:

Variant related genes	Relation type
ASIC3	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1050702	0.81[EUR][1000 genomes]
rs10952299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11769256	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11977275	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12531871	1.00[CHB][hapmap]
rs12538823	1.00[CHB][hapmap]
rs12703112	0.82[ASW][hapmap];0.82[CEU][hapmap]
rs13240966	0.80[EUR][1000 genomes]
rs6967282	1.00[CHB][hapmap]
rs7786151	1.00[CHB][hapmap]
rs9278	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
12	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
13	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
15	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
16	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
17	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
19	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11770520	ABCB8	cis	parietal	SCAN
rs11770520	ATP6V0E2	cis	parietal	SCAN
rs11770520	ABCF2	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150726400-150745000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:150726600-150745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:150727000-150746400	Weak transcription	Fetal Brain Male	brain
4	chr7:150732400-150745800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:150734000-150748000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:150734400-150745200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:150734600-150745400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:150734600-150747400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:150734600-150747800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:150736400-150748000	Weak transcription	Psoas Muscle	Psoas
11	chr7:150736800-150745800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:150736800-150753800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:150737200-150745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:150737200-150745200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:150737800-150748200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:150738600-150749600	Weak transcription	K562	blood
17	chr7:150739600-150750000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:150740000-150746600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:150740200-150753800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:150741400-150748000	Weak transcription	Left Ventricle	heart
21	chr7:150741400-150749400	Weak transcription	Brain Substantia Nigra	brain
22	chr7:150741600-150751200	Weak transcription	Primary B cells from cord blood	blood
23	chr7:150742400-150745200	Enhancers	HSMMtube	muscle
24	chr7:150742600-150745000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:150742600-150748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:150742600-150754400	Weak transcription	Aorta	Aorta
27	chr7:150742800-150745600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:150742800-150750200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:150743000-150745200	Enhancers	HSMM	muscle
30	chr7:150743000-150748000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:150743200-150746800	Weak transcription	Fetal Thymus	thymus
32	chr7:150743200-150747800	Weak transcription	Dnd41	blood
33	chr7:150743200-150748000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:150743200-150748800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:150743400-150745200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:150743400-150745200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:150743400-150745800	Enhancers	Fetal Muscle Leg	muscle
38	chr7:150743400-150746200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:150743400-150748000	Weak transcription	Esophagus	oesophagus
40	chr7:150743400-150748000	Weak transcription	Gastric	stomach
41	chr7:150743600-150745000	Enhancers	Osteobl	bone
42	chr7:150743600-150745200	Enhancers	NHDF-Ad	bronchial
43	chr7:150743800-150745000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:150743800-150745000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:150743800-150745000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:150743800-150745400	Enhancers	Placenta	Placenta
47	chr7:150743800-150745400	Weak transcription	Thymus	Thymus
48	chr7:150743800-150745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:150743800-150745800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:150743800-150746000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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