Variant report

Variant	rs4670144
Chromosome Location	chr2:36601332-36601333
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	POLR2A	chr2:36598097-36601564	HUVEC	blood vessel:	n/a	n/a
2	GATA3	chr2:36601277-36602324	SK-N-SH	brain:	n/a	chr2:36601772-36601782
3	STAT1	chr2:36598080-36601546	Hela-S3	cervix:	n/a	chr2:36599449-36599457 chr2:36600492-36600501 chr2:36600489-36600496 chr2:36599255-36599263 chr2:36600176-36600183 chr2:36598908-36598916 chr2:36598126-36598133 chr2:36600490-36600501 chr2:36600491-36600500
4	POLR2A	chr2:36601087-36601374	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr2:36601313-36601409	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr2:36600176-36602159	MCF10A-Er-Src	breast:	n/a	chr2:36600492-36600501 chr2:36600489-36600496 chr2:36600176-36600183 chr2:36600490-36600501 chr2:36600491-36600500
7	EP300	chr2:36601216-36602197	SK-N-SH	brain:	n/a	chr2:36601915-36601922 chr2:36601680-36601688 chr2:36602177-36602187 chr2:36601945-36601958 chr2:36601815-36601829
8	POLR2A	chr2:36597954-36602067	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr2:36601327-36602244	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr2:36597881-36602660	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr2:36593233-36602259	HepG2	liver:	n/a	n/a
12	MAX	chr2:36600088-36601557	A549	lung:	n/a	n/a
13	SIX5	chr2:36600151-36601375	A549	lung:	n/a	n/a
14	POLR2A	chr2:36597942-36602440	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr2:36597972-36602106	A549	lung:	n/a	n/a
16	TCF12	chr2:36601158-36602621	SK-N-SH	brain:	n/a	chr2:36602177-36602186
17	POLR2A	chr2:36597868-36601666	IMR90	lung:	n/a	n/a
18	NFIC	chr2:36601193-36602616	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CRIM1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10167894	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10178804	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10192912	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10198159	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11898050	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12712500	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4670547	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9308991	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9308992	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:36593400-36601800	Enhancers	Fetal Lung	lung
5	chr2:36593600-36602400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:36594000-36603600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:36594200-36601600	Weak transcription	Fetal Brain Male	brain
8	chr2:36594200-36605400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:36594400-36602000	Enhancers	Fetal Heart	heart
10	chr2:36595200-36606000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:36595400-36603600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:36595600-36604200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:36595600-36604400	Enhancers	Colon Smooth Muscle	Colon
14	chr2:36596600-36603200	Enhancers	HepG2	liver
15	chr2:36597000-36603400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:36598000-36602000	Enhancers	Small Intestine	intestine
17	chr2:36598200-36601400	Enhancers	Fetal Muscle Leg	muscle
18	chr2:36598200-36602600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:36598400-36603800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:36598600-36601800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:36598600-36603400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:36598600-36603400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:36598600-36607000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:36598800-36601800	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:36598800-36602200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:36598800-36602800	Weak transcription	Liver	Liver
27	chr2:36598800-36603200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:36599000-36603400	Weak transcription	Brain Substantia Nigra	brain
29	chr2:36599000-36603400	Enhancers	NHLF	lung
30	chr2:36599000-36604000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:36599200-36601600	Enhancers	Psoas Muscle	Psoas
32	chr2:36599200-36601800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr2:36599200-36602000	Enhancers	HSMMtube	muscle
34	chr2:36599200-36602800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:36599200-36603600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:36599400-36602800	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:36599400-36603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:36599400-36609600	Enhancers	HMEC	breast
39	chr2:36599800-36601400	Enhancers	Placenta	Placenta
40	chr2:36599800-36602000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:36599800-36602000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:36599800-36602000	Enhancers	Left Ventricle	heart
43	chr2:36599800-36603400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:36599800-36605400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:36600000-36602000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr2:36600000-36602000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:36600000-36607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:36600000-36609000	Genic enhancers	HSMM	muscle
49	chr2:36600200-36602400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:36600400-36601400	Enhancers	Esophagus	oesophagus

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