Variant report

Variant	rs10147863
Chromosome Location	chr14:72064096-72064097
allele	A/G
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	MAFF	chr14:72064031-72064389	HepG2	liver:	n/a	chr14:72064195-72064213
2	MAFK	chr14:72064040-72064380	HepG2	liver:	n/a	chr14:72064197-72064212
3	MAFK	chr14:72064020-72064387	IMR90	lung:	n/a	chr14:72064197-72064212
4	MAFK	chr14:72064066-72064291	H1-hESC	embryonic stem cell:	n/a	chr14:72064197-72064212
5	MAFK	chr14:72064032-72064378	K562	blood:	n/a	chr14:72064197-72064212
6	MAFF	chr14:72064029-72064356	K562	blood:	n/a	chr14:72064195-72064213
7	MAFK	chr14:72064024-72064393	HepG2	liver:	n/a	chr14:72064197-72064212
8	MAFK	chr14:72064036-72064365	Hela-S3	cervix:	n/a	chr14:72064197-72064212

Variant related genes	Relation type
SIPA1L1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11846689	0.92[ASN][1000 genomes]
rs17096112	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs1859551	0.87[YRI][hapmap]
rs35169957	0.90[ASN][1000 genomes]
rs3784060	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4140798	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4464023	0.87[YRI][hapmap]
rs61989427	0.92[ASN][1000 genomes]
rs7141155	0.88[ASW][hapmap];0.80[LWK][hapmap];0.91[YRI][hapmap]
rs7145435	0.82[YRI][hapmap]
rs7149924	0.89[ASN][1000 genomes]
rs8007521	0.87[YRI][hapmap]
rs9972151	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72039400-72064400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:72042000-72069400	Weak transcription	Lung	lung
3	chr14:72053400-72064400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:72053400-72066400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:72053400-72066600	Weak transcription	Adipose Nuclei	Adipose
6	chr14:72053400-72070200	Weak transcription	Fetal Intestine Small	intestine
7	chr14:72053400-72098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:72053600-72064600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:72053600-72066000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:72053600-72066200	Weak transcription	Liver	Liver
11	chr14:72053600-72066600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:72053600-72068000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:72055200-72087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:72058600-72065000	Enhancers	Fetal Thymus	thymus
15	chr14:72059000-72098600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:72059400-72064200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:72059400-72064200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:72059400-72064200	Weak transcription	Primary B cells from cord blood	blood
19	chr14:72059400-72064400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:72059400-72064400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:72059400-72066800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:72059400-72072400	Weak transcription	Pancreas	Pancrea
23	chr14:72059400-72072600	Weak transcription	Gastric	stomach
24	chr14:72059400-72088000	Weak transcription	NHLF	lung
25	chr14:72059600-72064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:72059600-72072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:72059800-72085600	Weak transcription	NH-A	brain
28	chr14:72059800-72087600	Weak transcription	Hela-S3	cervix
29	chr14:72060200-72064200	Weak transcription	Spleen	Spleen
30	chr14:72060800-72064400	Weak transcription	Aorta	Aorta
31	chr14:72060800-72072400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:72061000-72066600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:72061600-72064200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:72061800-72064400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:72061800-72064800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:72061800-72065000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:72062000-72064200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:72062000-72064200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr14:72062000-72064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:72062000-72065800	Enhancers	Primary T cells from cord blood	blood
41	chr14:72062200-72064200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:72062200-72064400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr14:72062400-72064200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:72062400-72064200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:72062400-72064400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:72062400-72064400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:72062400-72067000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:72062600-72064400	Weak transcription	HSMMtube	muscle
49	chr14:72062600-72064600	Weak transcription	HSMM	muscle
50	chr14:72062600-72064800	Weak transcription	Small Intestine	intestine

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