Variant report

Variant	rs12536349
Chromosome Location	chr7:40151631-40151632
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	chr7:40151530-40151792	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:40151468-40151669	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000270577	TF binding region

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10156182	0.81[ASN][1000 genomes]
rs10233552	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10252631	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10254394	0.84[ASN][1000 genomes]
rs10268288	0.93[ASN][1000 genomes]
rs10951623	0.92[EUR][1000 genomes]
rs10951624	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10951625	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11972983	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11977756	0.92[EUR][1000 genomes]
rs11983287	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12530835	0.92[EUR][1000 genomes]
rs12531761	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12531774	0.92[EUR][1000 genomes]
rs12532714	0.89[EUR][1000 genomes]
rs12534103	0.89[EUR][1000 genomes]
rs12535281	0.82[EUR][1000 genomes]
rs12536190	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12536726	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537125	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537320	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12539956	0.89[EUR][1000 genomes]
rs1257698	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12666454	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12669872	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12672040	0.89[EUR][1000 genomes]
rs12672136	0.92[EUR][1000 genomes]
rs12672142	0.92[EUR][1000 genomes]
rs13438258	0.82[EUR][1000 genomes]
rs13438262	0.82[EUR][1000 genomes]
rs13438324	0.82[EUR][1000 genomes]
rs1568645	0.97[ASN][1000 genomes]
rs17171637	0.92[EUR][1000 genomes]
rs17171645	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17171646	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17496429	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17496670	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17496733	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17537767	0.92[EUR][1000 genomes]
rs17538125	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2015842	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2077124	0.85[ASN][1000 genomes]
rs2109339	0.84[ASN][1000 genomes]
rs2159489	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2302341	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2329615	0.82[EUR][1000 genomes]
rs2329693	0.81[ASN][1000 genomes]
rs28879668	0.82[EUR][1000 genomes]
rs3735135	0.92[EUR][1000 genomes]
rs3800799	0.90[EUR][1000 genomes]
rs3801238	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3847019	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3847020	0.85[ASN][1000 genomes]
rs3847021	0.93[ASN][1000 genomes]
rs3911836	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3911889	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4344004	0.92[EUR][1000 genomes]
rs4720344	0.87[EUR][1000 genomes]
rs4720347	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4720348	0.82[ASN][1000 genomes]
rs4720349	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4720352	0.97[ASN][1000 genomes]
rs4723923	0.92[EUR][1000 genomes]
rs4723925	0.89[EUR][1000 genomes]
rs4723927	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4723928	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4723929	0.94[ASN][1000 genomes]
rs60315659	0.92[EUR][1000 genomes]
rs6961040	0.82[EUR][1000 genomes]
rs6963973	0.82[EUR][1000 genomes]
rs6967332	0.82[EUR][1000 genomes]
rs6975853	0.93[ASN][1000 genomes]
rs731847	0.81[ASN][1000 genomes]
rs731848	0.81[ASN][1000 genomes]
rs73394665	0.94[ASN][1000 genomes]
rs758696	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs773411	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7779663	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs940272	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv1024735	chr7:40149227-40203356	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40134600-40159600	Weak transcription	Left Ventricle	heart
2	chr7:40134600-40161800	Weak transcription	Pancreas	Pancrea
3	chr7:40134600-40171800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:40134600-40173200	Weak transcription	Lung	lung
5	chr7:40134800-40155800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:40134800-40166800	Weak transcription	Fetal Stomach	stomach
7	chr7:40135000-40152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:40135000-40157000	Weak transcription	HSMMtube	muscle
9	chr7:40135000-40166800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:40135000-40172800	Weak transcription	Fetal Kidney	kidney
11	chr7:40135200-40153200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:40135200-40153800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:40135200-40171000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:40135200-40171400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:40135600-40152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:40135600-40173000	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:40135800-40154400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:40136000-40172200	Weak transcription	Osteobl	bone
19	chr7:40136200-40171800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:40136600-40168200	Weak transcription	Primary B cells from cord blood	blood
21	chr7:40136600-40173200	Weak transcription	Placenta	Placenta
22	chr7:40137000-40166800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:40137400-40172000	Weak transcription	Fetal Lung	lung
24	chr7:40137600-40151800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:40137600-40151800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:40137600-40170600	Weak transcription	Dnd41	blood
27	chr7:40137600-40171800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:40137600-40172200	Weak transcription	A549	lung
29	chr7:40137800-40166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:40137800-40170200	Weak transcription	HSMM	muscle
31	chr7:40137800-40171800	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:40138000-40159800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:40139400-40160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:40142800-40152000	Weak transcription	Fetal Intestine Small	intestine
35	chr7:40147000-40157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:40147200-40152000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:40147400-40151800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:40147400-40161800	Weak transcription	Fetal Intestine Large	intestine
39	chr7:40148400-40169400	Weak transcription	Primary T cells from cord blood	blood
40	chr7:40150000-40162800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:40151000-40152000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:40151400-40151800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:40151600-40156400	Weak transcription	Brain Hippocampus Middle	brain

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