Variant report

Variant	rs12764498
Chromosome Location	chr10:5042294-5042295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:5042201-5042591	A549	lung:	n/a	n/a
2	HEY1	chr10:5042069-5042447	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:5042146-5042876	A549	lung:	n/a	n/a
4	POLR2A	chr10:5042110-5042953	A549	lung:	n/a	n/a
5	SP1	chr10:5039869-5045261	A549	lung:	n/a	n/a
6	POLR2A	chr10:5041169-5042485	HepG2	liver:	n/a	n/a
7	ZBTB33	chr10:5042185-5042680	A549	lung:	n/a	n/a
8	POLR2A	chr10:5042223-5042451	A549	lung:	n/a	n/a
9	SIN3AK20	chr10:5042055-5042522	A549	lung:	n/a	n/a
10	BCL3	chr10:5042177-5042783	A549	lung:	n/a	n/a
11	REST	chr10:5042168-5042996	A549	lung:	n/a	n/a
12	POLR2A	chr10:5042167-5042455	HepG2	liver:	n/a	n/a
13	BCL3	chr10:5042025-5043017	A549	lung:	n/a	n/a
14	JUND	chr10:5042168-5042783	A549	lung:	n/a	n/a
15	POLR2A	chr10:5042208-5042582	A549	lung:	n/a	n/a
16	SP1	chr10:5039954-5045161	A549	lung:	n/a	n/a
17	TCF12	chr10:5042180-5045370	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5026070..5027592-chr10:5040944..5042648,2	K562	blood:
2	chr10:5039943..5042485-chr10:5047433..5049901,2	MCF-7	breast:
3	chr10:5040612..5043134-chr10:5043757..5046328,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239148	TF binding region
ENSG00000151632	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35767584	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67362530	0.90[AMR][1000 genomes];0.83[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	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv549884	chr10:5037926-5065248	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1036566	chr10:5037926-5261426	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv549883	chr10:5037926-5275762	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12764498	AKR1C1	cis	Whole Blood	GTEx
rs12764498	AKR1C2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
2	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
3	chr10:5011600-5044200	Weak transcription	Fetal Brain Female	brain
4	chr10:5011800-5043800	Weak transcription	Psoas Muscle	Psoas
5	chr10:5019400-5044600	Weak transcription	Brain Germinal Matrix	brain
6	chr10:5021800-5044400	Weak transcription	NHDF-Ad	bronchial
7	chr10:5024400-5056800	Weak transcription	Esophagus	oesophagus
8	chr10:5024800-5044400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:5024800-5051400	Weak transcription	Fetal Intestine Small	intestine
10	chr10:5025000-5045800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:5025200-5044200	Weak transcription	K562	blood
12	chr10:5027400-5042400	Weak transcription	Gastric	stomach
13	chr10:5027600-5045000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:5027800-5043200	Weak transcription	HepG2	liver
15	chr10:5027800-5045800	Weak transcription	Fetal Stomach	stomach
16	chr10:5027800-5045800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:5027800-5050600	Weak transcription	Pancreas	Pancrea
18	chr10:5028000-5045800	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:5033800-5044600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:5034800-5042800	Weak transcription	Fetal Intestine Large	intestine
21	chr10:5036800-5043200	Weak transcription	Right Atrium	heart
22	chr10:5040000-5045200	Transcr. at gene 5' and 3'	A549	lung
23	chr10:5040000-5045600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:5041000-5044600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:5041200-5043800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:5041200-5044000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:5041200-5044200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:5041600-5045800	Weak transcription	HMEC	breast
29	chr10:5041600-5047400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:5041800-5042600	Weak transcription	Liver	Liver
31	chr10:5042200-5042400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:5042200-5042600	Genic enhancers	Adipose Nuclei	Adipose
33	chr10:5042200-5043400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:5042200-5045600	Weak transcription	Osteobl	bone

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