Variant report

Variant	rs2385911
Chromosome Location	chr4:7937438-7937439
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	chr4:7937211-7937620	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7930429..7933293-chr4:7935968..7937557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228919	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1320069	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1814873	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1814874	0.83[EUR][1000 genomes]
rs2385913	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2386056	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4235268	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4235269	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4345163	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4385040	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4696825	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4696827	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4696834	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5012708	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5012709	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6447871	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6816560	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6819776	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7655226	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7667982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681378	0.84[ASN][1000 genomes]
rs7683285	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7685634	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7931400-7939800	Weak transcription	Fetal Kidney	kidney
2	chr4:7931600-7939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:7931600-7939600	Weak transcription	Ovary	ovary
4	chr4:7931600-7939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:7931600-7939800	Weak transcription	Lung	lung
6	chr4:7931800-7937600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:7931800-7938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:7931800-7938600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:7931800-7939600	Weak transcription	Brain Angular Gyrus	brain
10	chr4:7932000-7938000	Weak transcription	Brain Germinal Matrix	brain
11	chr4:7932000-7938800	Weak transcription	Fetal Lung	lung
12	chr4:7932000-7939600	Weak transcription	Brain Anterior Caudate	brain
13	chr4:7932000-7939600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:7932000-7939600	Weak transcription	Left Ventricle	heart
15	chr4:7932000-7939600	Weak transcription	NHLF	lung
16	chr4:7932000-7939800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:7932000-7939800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:7932000-7939800	Weak transcription	Small Intestine	intestine
19	chr4:7932200-7938400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:7932200-7939600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:7932200-7939600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:7932200-7939800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:7932200-7939800	Weak transcription	Pancreas	Pancrea
24	chr4:7932400-7939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:7932800-7939600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:7935400-7939600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:7935600-7939600	Weak transcription	Aorta	Aorta
28	chr4:7935600-7939600	Enhancers	HSMMtube	muscle
29	chr4:7935800-7938000	Enhancers	Fetal Brain Female	brain
30	chr4:7935800-7938800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:7935800-7939000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:7935800-7939600	Weak transcription	Placenta	Placenta
33	chr4:7936000-7937600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:7936000-7937600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:7936000-7938800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:7936200-7938000	Enhancers	Rectal Smooth Muscle	rectum
37	chr4:7936200-7938400	Weak transcription	Fetal Brain Male	brain
38	chr4:7936200-7939000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:7936200-7939600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:7936200-7939800	Weak transcription	Right Ventricle	heart
41	chr4:7936400-7939000	Weak transcription	Colonic Mucosa	Colon
42	chr4:7936400-7939000	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:7936400-7939200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:7936400-7939400	Weak transcription	Fetal Stomach	stomach
45	chr4:7936400-7939600	Weak transcription	Fetal Intestine Small	intestine
46	chr4:7936400-7939600	Weak transcription	Stomach Mucosa	stomach
47	chr4:7936400-7939800	Weak transcription	Esophagus	oesophagus
48	chr4:7936600-7937800	Weak transcription	Hela-S3	cervix
49	chr4:7936600-7938600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:7936600-7938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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