Variant report

Variant	rs2069459
Chromosome Location	chr7:150751590-150751591
allele	G/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	chr7:150751275-150752197	A549	lung:	n/a	n/a
2	POLR2A	chr7:150751053-150751665	K562	blood:	n/a	n/a
3	POLR2A	chr7:150749745-150752351	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SLC4A2	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2069452	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2303930	0.84[EUR][1000 genomes]
rs58134191	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
21	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2069459	TMEM176B	cis	cerebellum	SCAN
rs2069459	CDK5	cis	cerebellum	SCAN
rs2069459	SMARCD3	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150736800-150753800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150740200-150753800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:150742600-150754400	Weak transcription	Aorta	Aorta
4	chr7:150743800-150753800	Weak transcription	Liver	Liver
5	chr7:150744400-150754000	Weak transcription	A549	lung
6	chr7:150744800-150754200	Weak transcription	Right Atrium	heart
7	chr7:150745200-150754000	Weak transcription	HSMMtube	muscle
8	chr7:150745200-150754200	Weak transcription	NHDF-Ad	bronchial
9	chr7:150746000-150754000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:150748200-150754000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:150748200-150754000	Weak transcription	Psoas Muscle	Psoas
12	chr7:150748200-150754200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:150748400-150751600	Weak transcription	Brain Anterior Caudate	brain
14	chr7:150748400-150753800	Weak transcription	HMEC	breast
15	chr7:150748400-150754000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:150748400-150754000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:150748400-150754000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:150748400-150754000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:150748400-150754000	Weak transcription	Left Ventricle	heart
20	chr7:150748600-150753600	Weak transcription	Fetal Heart	heart
21	chr7:150748600-150753800	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:150748600-150753800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:150748600-150753800	Weak transcription	Lung	lung
24	chr7:150748600-150753800	Weak transcription	NHEK	skin
25	chr7:150748600-150754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:150748600-150754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:150748600-150754000	Weak transcription	NHLF	lung
28	chr7:150748600-150754000	Weak transcription	Osteobl	bone
29	chr7:150748600-150754200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:150748600-150754200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:150749000-150753400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:150749000-150753600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:150749000-150753600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:150749000-150753800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:150749000-150753800	Weak transcription	Pancreas	Pancrea
36	chr7:150749000-150754000	Weak transcription	Adipose Nuclei	Adipose
37	chr7:150749000-150754000	Weak transcription	Ovary	ovary
38	chr7:150749000-150754000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:150749200-150752600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr7:150749200-150752600	Strong transcription	Fetal Intestine Small	intestine
41	chr7:150749200-150753200	Weak transcription	Fetal Brain Male	brain
42	chr7:150749200-150753800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:150749200-150753800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:150749200-150754000	Weak transcription	Right Ventricle	heart
45	chr7:150749200-150754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:150749400-150752000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:150749400-150752000	Strong transcription	Brain Substantia Nigra	brain
48	chr7:150749400-150753400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:150749600-150751800	Strong transcription	Esophagus	oesophagus
50	chr7:150749600-150753200	Weak transcription	Dnd41	blood

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