Variant report

Variant	rs12357650
Chromosome Location	chr10:5033232-5033233
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	SIN3AK20	chr10:5033222-5033806	A549	lung:	n/a	n/a
2	ZBTB33	chr10:5033189-5033555	A549	lung:	n/a	n/a
3	BCL3	chr10:5033178-5033729	A549	lung:	n/a	n/a
4	SP1	chr10:5033164-5034208	A549	lung:	n/a	n/a
5	TCF12	chr10:5033106-5033703	A549	lung:	n/a	n/a
6	BCL3	chr10:5032139-5033834	A549	lung:	n/a	n/a
7	SP1	chr10:5033163-5034086	A549	lung:	n/a	n/a
8	POLR2A	chr10:5032403-5033612	HepG2	liver:	n/a	n/a
9	JUND	chr10:5033218-5034389	A549	lung:	n/a	n/a
10	REST	chr10:5032504-5033719	A549	lung:	n/a	n/a
11	ELF1	chr10:5033205-5033604	A549	lung:	n/a	chr10:5033369-5033380
12	POLR2A	chr10:5031829-5033868	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000224251	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10904381	1.00[ASN][1000 genomes]
rs11252863	1.00[ASN][1000 genomes]
rs11252867	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12356635	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12772460	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396032	1.00[ASN][1000 genomes]
rs61854345	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:33 , 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	chr10:5024400-5036400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:5024400-5039400	Weak transcription	Ovary	ovary
9	chr10:5024400-5040400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:5024400-5040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:5024400-5056800	Weak transcription	Esophagus	oesophagus
12	chr10:5024800-5044400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr10:5024800-5051400	Weak transcription	Fetal Intestine Small	intestine
14	chr10:5025000-5045800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr10:5025200-5044200	Weak transcription	K562	blood
16	chr10:5027400-5042400	Weak transcription	Gastric	stomach
17	chr10:5027600-5045000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:5027800-5036600	Weak transcription	Right Atrium	heart
19	chr10:5027800-5038600	Weak transcription	Left Ventricle	heart
20	chr10:5027800-5043200	Weak transcription	HepG2	liver
21	chr10:5027800-5045800	Weak transcription	Fetal Stomach	stomach
22	chr10:5027800-5045800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr10:5027800-5050600	Weak transcription	Pancreas	Pancrea
24	chr10:5028000-5045800	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:5030200-5042200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:5030400-5039200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:5032200-5034000	Strong transcription	Adipose Nuclei	Adipose
28	chr10:5032400-5033800	Strong transcription	Liver	Liver
29	chr10:5032400-5033800	Transcr. at gene 5' and 3'	A549	lung
30	chr10:5032600-5033800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:5032600-5033800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:5032800-5033800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:5032800-5033800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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