Variant report

Variant	rs72954675
Chromosome Location	chr2:114039917-114039918
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	NFIC	chr2:114039914-114041352	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:114039789-114040167	ECC-1	luminal epithelium:	n/a	n/a
3	MBD4	chr2:114039913-114041064	HepG2	liver:	n/a	n/a
4	HEY1	chr2:114039910-114041181	HepG2	liver:	n/a	n/a
5	MAX	chr2:114039577-114042272	A549	lung:	n/a	chr2:114040779-114040788 chr2:114040778-114040788 chr2:114040779-114040788 chr2:114040777-114040785 chr2:114040778-114040789 chr2:114040206-114040215 chr2:114040779-114040788
6	SP1	chr2:114039766-114041029	HepG2	liver:	n/a	chr2:114040737-114040751 chr2:114039879-114039889
7	MBD4	chr2:114039903-114041274	HepG2	liver:	n/a	n/a
8	MAX	chr2:114039802-114041133	HepG2	liver:	n/a	chr2:114040779-114040788 chr2:114040778-114040788 chr2:114040779-114040788 chr2:114040777-114040785 chr2:114040778-114040789 chr2:114040206-114040215 chr2:114040779-114040788
9	HEY1	chr2:114039897-114041122	HepG2	liver:	n/a	n/a
10	HNF4A	chr2:114039804-114040975	HepG2	liver:	n/a	chr2:114040449-114040461 chr2:114040448-114040462 chr2:114040448-114040463 chr2:114040448-114040461
11	POLR2A	chr2:114039871-114041120	HepG2	liver:	n/a	n/a
12	MAX	chr2:114039600-114041719	HepG2	liver:	n/a	chr2:114040779-114040788 chr2:114040778-114040788 chr2:114040779-114040788 chr2:114040777-114040785 chr2:114040778-114040789 chr2:114040206-114040215 chr2:114040779-114040788
13	POLR2A	chr2:114039883-114041078	HepG2	liver:	n/a	n/a
14	ZBTB7A	chr2:114039895-114040361	HepG2	liver:	n/a	n/a
15	NFIC	chr2:114039857-114041153	HepG2	liver:	n/a	n/a
16	MYBL2	chr2:114039554-114041115	HepG2	liver:	n/a	n/a
17	TCF12	chr2:114039879-114042422	A549	lung:	n/a	chr2:114039947-114039956 chr2:114041607-114041617
18	POLR2A	chr2:114039370-114039927	U87	brain:	n/a	n/a
19	FOXA1	chr2:114039742-114041036	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:114039876-114041153	HepG2	liver:	n/a	n/a
21	MYBL2	chr2:114039715-114041218	HepG2	liver:	n/a	n/a
22	YY1	chr2:114039898-114040245	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114033208..114035776-chr2:114039656..114042402,2	K562	blood:

Variant related genes	Relation type
PAX8	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13383878	0.85[AFR][1000 genomes]
rs1823096	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114036600-114043800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:114037400-114040600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:114037400-114043600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:114037600-114042200	Enhancers	Pancreas	Pancrea
5	chr2:114037600-114043800	Enhancers	HMEC	breast
6	chr2:114038200-114043800	Enhancers	Fetal Intestine Large	intestine
7	chr2:114038400-114043600	Enhancers	Fetal Intestine Small	intestine
8	chr2:114038600-114040800	Enhancers	NHEK	skin
9	chr2:114038600-114043600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:114038600-114043800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:114039000-114040000	Enhancers	Liver	Liver
12	chr2:114039000-114040000	Enhancers	HepG2	liver
13	chr2:114039000-114040600	Weak transcription	NHDF-Ad	bronchial
14	chr2:114039000-114041400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:114039000-114043800	Enhancers	HSMM	muscle
16	chr2:114039200-114041800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:114039400-114040400	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:114039400-114041800	Enhancers	NH-A	brain
19	chr2:114039400-114042000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:114039400-114043000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:114039400-114043200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:114039400-114043200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:114039600-114040000	Enhancers	Brain Germinal Matrix	brain
24	chr2:114039600-114040400	Enhancers	Brain Hippocampus Middle	brain
25	chr2:114039600-114041400	Flanking Active TSS	A549	lung
26	chr2:114039600-114042200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:114039600-114042400	Enhancers	Adipose Nuclei	Adipose
28	chr2:114039600-114042600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:114039600-114043400	Enhancers	Osteobl	bone
30	chr2:114039600-114043600	Enhancers	HSMMtube	muscle
31	chr2:114039600-114043800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:114039800-114040000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:114039800-114040200	Bivalent Enhancer	Fetal Kidney	kidney
34	chr2:114039800-114040400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr2:114039800-114040600	Enhancers	Gastric	stomach
36	chr2:114039800-114041200	Enhancers	Lung	lung
37	chr2:114039800-114041400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr2:114039800-114042200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:114039800-114042200	Enhancers	Stomach Mucosa	stomach
40	chr2:114039800-114043600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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