Variant report

Variant	rs11901601
Chromosome Location	chr2:86419227-86419228
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	chr2:86419108-86419288	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000273080	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10185778	1.00[EUR][1000 genomes]
rs1124687	1.00[EUR][1000 genomes]
rs11845	1.00[EUR][1000 genomes]
rs11884765	1.00[EUR][1000 genomes]
rs11891306	1.00[EUR][1000 genomes]
rs11891814	1.00[EUR][1000 genomes]
rs11902617	1.00[EUR][1000 genomes]
rs17026940	1.00[EUR][1000 genomes]
rs17027017	1.00[EUR][1000 genomes]
rs17027032	1.00[EUR][1000 genomes]
rs2228352	1.00[EUR][1000 genomes]
rs6724856	1.00[EUR][1000 genomes]
rs6734409	1.00[EUR][1000 genomes]
rs725047	1.00[EUR][1000 genomes]
rs72934506	1.00[EUR][1000 genomes]
rs7580424	0.83[AMR][1000 genomes]
rs7592378	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86390400-86421200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:86404000-86421200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:86406000-86421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:86407000-86421200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:86407200-86420800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:86407200-86421000	Weak transcription	Small Intestine	intestine
7	chr2:86407200-86421200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:86408400-86421000	Weak transcription	Brain Germinal Matrix	brain
9	chr2:86408600-86420600	Weak transcription	NH-A	brain
10	chr2:86408600-86421000	Weak transcription	Fetal Intestine Large	intestine
11	chr2:86408600-86421200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:86411600-86421200	Weak transcription	Aorta	Aorta
13	chr2:86412400-86420600	Weak transcription	Stomach Mucosa	stomach
14	chr2:86412400-86421000	Weak transcription	Right Atrium	heart
15	chr2:86413400-86419800	Genic enhancers	Dnd41	blood
16	chr2:86413400-86419800	Weak transcription	Osteobl	bone
17	chr2:86413400-86420800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:86413600-86419600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:86413800-86419600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:86413800-86419800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:86413800-86420200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:86413800-86420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:86413800-86420600	Weak transcription	NHDF-Ad	bronchial
24	chr2:86413800-86420800	Weak transcription	Brain Anterior Caudate	brain
25	chr2:86413800-86421000	Weak transcription	Brain Angular Gyrus	brain
26	chr2:86413800-86421000	Weak transcription	Gastric	stomach
27	chr2:86414000-86419800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:86414000-86420600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:86414000-86420800	Weak transcription	Fetal Lung	lung
30	chr2:86414000-86421000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:86414000-86421000	Weak transcription	Colonic Mucosa	Colon
32	chr2:86414200-86419600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:86414200-86420800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:86414200-86421200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:86414400-86419800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:86414400-86420600	Weak transcription	HSMMtube	muscle
37	chr2:86414400-86421200	Weak transcription	Fetal Kidney	kidney
38	chr2:86414600-86419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:86414600-86420600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:86414800-86419800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:86414800-86420800	Weak transcription	HUVEC	blood vessel
42	chr2:86415200-86420800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:86415800-86420200	Weak transcription	Esophagus	oesophagus
44	chr2:86416600-86421000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:86416800-86421200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:86417000-86421000	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:86417200-86419400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:86417400-86420000	Genic enhancers	HepG2	liver
49	chr2:86417400-86421200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:86417600-86419800	Weak transcription	Brain Substantia Nigra	brain

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