Variant report

Variant	rs73936506
Chromosome Location	chr2:55194445-55194446
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	chr2:55193161-55194898	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr2:55193058-55197604	PANC-1	pancreas:	n/a	n/a
3	CTCF	chr2:55194340-55194490	HCPEpiC	choroid plexus:	n/a	n/a
4	POLR2A	chr2:55194430-55195407	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr2:55192057-55196307	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr2:55193400-55197464	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:55193200-55198888	A549	lung:	n/a	n/a
8	POLR2A	chr2:55190471-55199022	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr2:55193167-55197152	U87	brain:	n/a	n/a
10	POLR2A	chr2:55190362-55199062	U87	brain:	n/a	n/a
11	POLR2A	chr2:55194093-55194612	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr2:55194189-55195244	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr2:55194441-55194543	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr2:55193167-55197203	U87	brain:	n/a	n/a
15	POLR2A	chr2:55194328-55196339	HL-60	blood:	n/a	n/a
16	POLR2A	chr2:55193277-55201440	K562	blood:	n/a	n/a
17	POLR2A	chr2:55191336-55197109	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr2:55193286-55194555	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr2:55193180-55198666	IMR90	lung:	n/a	n/a
20	POLR2A	chr2:55190362-55199105	U87	brain:	n/a	n/a

Variant related genes	Relation type
EML6	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11884082	0.85[AMR][1000 genomes]
rs11886393	0.83[AMR][1000 genomes]
rs11892015	0.85[AMR][1000 genomes]
rs11895689	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897363	0.83[AMR][1000 genomes]
rs11899197	0.85[AMR][1000 genomes]
rs11899295	0.85[AMR][1000 genomes]
rs15028	0.85[AMR][1000 genomes]
rs17046545	0.85[AMR][1000 genomes]
rs17046564	0.85[AMR][1000 genomes]
rs2864047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864048	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58156158	0.85[AMR][1000 genomes]
rs73936508	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936512	0.85[AMR][1000 genomes]
rs73936517	0.85[AMR][1000 genomes]
rs73936518	0.85[AMR][1000 genomes]
rs73936821	0.85[AMR][1000 genomes]
rs73936824	0.85[AMR][1000 genomes]
rs957920	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55173200-55203400	Weak transcription	Gastric	stomach
2	chr2:55173600-55195000	Weak transcription	Pancreas	Pancrea
3	chr2:55175600-55194600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:55180600-55195400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:55180600-55196000	Weak transcription	NH-A	brain
6	chr2:55181600-55203400	Weak transcription	Ovary	ovary
7	chr2:55183200-55206800	Weak transcription	Stomach Mucosa	stomach
8	chr2:55183400-55196600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:55184800-55195800	Weak transcription	Thymus	Thymus
10	chr2:55184800-55214800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:55187000-55195000	Weak transcription	Dnd41	blood
12	chr2:55190000-55198400	Weak transcription	Colonic Mucosa	Colon
13	chr2:55190000-55203400	Weak transcription	Small Intestine	intestine
14	chr2:55190600-55198000	Genic enhancers	Fetal Muscle Leg	muscle
15	chr2:55190800-55196600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:55191200-55195400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:55191200-55198200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:55191200-55199200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:55191400-55195400	Weak transcription	Fetal Intestine Large	intestine
20	chr2:55191800-55203600	Weak transcription	Fetal Lung	lung
21	chr2:55191800-55211600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:55191800-55234200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:55192200-55194800	Enhancers	HUVEC	blood vessel
24	chr2:55192200-55195000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:55192200-55198600	Strong transcription	Fetal Stomach	stomach
26	chr2:55192400-55194600	Weak transcription	NHDF-Ad	bronchial
27	chr2:55192400-55195000	Weak transcription	Right Ventricle	heart
28	chr2:55192400-55195200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:55192600-55195000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:55192600-55195200	Weak transcription	Osteobl	bone
31	chr2:55192600-55195400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:55192600-55195400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:55192600-55198600	Strong transcription	Fetal Intestine Small	intestine
34	chr2:55192800-55194800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:55193000-55195000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:55193200-55195400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:55193400-55195200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:55193400-55195200	Enhancers	Brain Anterior Caudate	brain
39	chr2:55193400-55196200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:55193400-55196200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:55193400-55196800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:55193400-55197400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:55193400-55199000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:55193400-55201800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:55193400-55214800	Strong transcription	HepG2	liver
46	chr2:55193600-55195200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:55193600-55195200	Weak transcription	Adipose Nuclei	Adipose
48	chr2:55193600-55195800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:55193600-55196400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:55193600-55196400	Weak transcription	Rectal Mucosa Donor 31	rectum

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