Variant report

Variant	rs67081417
Chromosome Location	chr2:114002445-114002446
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	chr2:114001703-114002563	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr2:114001805-114002574	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr2:114002426-114002535	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114000599..114003472-chr2:114003637..114006808,6	K562	blood:
2	chr2:113997900..114001469-chr2:114001503..114004857,6	MCF-7	breast:
3	chr2:114000063..114003907-chr2:114004909..114007665,4	MCF-7	breast:

Variant related genes	Relation type
PAX8	TF binding region
ENSG00000258395	Chromatin interaction
ENSG00000125618	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13405033	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13431315	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35836064	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6542125	0.88[ASN][1000 genomes]
rs6542126	0.88[ASN][1000 genomes]
rs66775912	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6758928	0.88[ASN][1000 genomes]
rs67626501	0.88[ASN][1000 genomes]
rs67776659	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs67802835	0.81[AFR][1000 genomes]
rs72831838	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72954658	0.88[ASN][1000 genomes]
rs7558326	0.88[ASN][1000 genomes]
rs7580516	0.88[ASN][1000 genomes]
rs7585510	0.88[ASN][1000 genomes]
rs7595282	0.88[ASN][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	nsv459008	chr2:113972945-114010791	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv582713	chr2:113972945-114010791	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113993400-114006600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:113994200-114006600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:113994800-114006600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:113995000-114006800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:113995200-114007000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:113995600-114008600	Weak transcription	GM12878-XiMat	blood
7	chr2:113998200-114006600	Weak transcription	Fetal Thymus	thymus
8	chr2:113998200-114020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:113999000-114003000	Weak transcription	Fetal Lung	lung
10	chr2:113999000-114014800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:113999200-114005200	Weak transcription	Gastric	stomach
12	chr2:113999200-114007000	Weak transcription	Right Atrium	heart
13	chr2:113999200-114009400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:113999200-114013200	Weak transcription	Placenta	Placenta
15	chr2:113999400-114006600	Weak transcription	Colonic Mucosa	Colon
16	chr2:113999400-114009400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:113999600-114003200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:113999600-114006600	Weak transcription	K562	blood
19	chr2:113999600-114007000	Weak transcription	HSMMtube	muscle
20	chr2:113999600-114013200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:113999600-114016400	Weak transcription	Fetal Stomach	stomach
22	chr2:113999600-114028400	Weak transcription	Ovary	ovary
23	chr2:113999800-114005200	Weak transcription	Lung	lung
24	chr2:113999800-114006800	Weak transcription	NHLF	lung
25	chr2:114000000-114003000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:114000000-114006600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:114000000-114007000	Weak transcription	HSMM	muscle
28	chr2:114000200-114003000	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:114000200-114003000	Weak transcription	NHEK	skin
30	chr2:114000200-114006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:114000200-114009200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:114000200-114012000	Weak transcription	NHDF-Ad	bronchial
33	chr2:114000600-114002600	Strong transcription	Fetal Kidney	kidney
34	chr2:114000600-114006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:114000600-114011000	Weak transcription	Esophagus	oesophagus
36	chr2:114001000-114003600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:114001000-114004000	Enhancers	Fetal Intestine Large	intestine
38	chr2:114001200-114003600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:114001400-114003600	Enhancers	A549	lung
40	chr2:114001600-114003000	Enhancers	HepG2	liver
41	chr2:114001600-114003600	Enhancers	Adipose Nuclei	Adipose
42	chr2:114001600-114003800	Enhancers	Fetal Intestine Small	intestine
43	chr2:114001600-114004800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:114001800-114003600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:114001800-114003800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:114001800-114003800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:114002000-114003200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:114002000-114003600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:114002000-114004200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:114002000-114006800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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