Variant report

Variant	rs72930539
Chromosome Location	chr2:211340225-211340226
allele	A/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	MXI1	chr2:211340118-211342969	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:211340153-211341801	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:211325572..211327768-chr2:211338184..211340482,2	K562	blood:

Variant related genes	Relation type
CPS1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10804182	0.94[ASN][1000 genomes]
rs10804183	0.92[ASN][1000 genomes]
rs11690895	0.83[ASN][1000 genomes]
rs11889228	0.93[ASN][1000 genomes]
rs2287424	0.94[ASN][1000 genomes]
rs2287425	0.94[ASN][1000 genomes]
rs2287429	0.94[ASN][1000 genomes]
rs2287430	0.94[ASN][1000 genomes]
rs2287431	0.94[ASN][1000 genomes]
rs2287432	0.94[ASN][1000 genomes]
rs2370949	0.93[ASN][1000 genomes]
rs2887899	0.94[ASN][1000 genomes]
rs3755184	0.94[ASN][1000 genomes]
rs3770689	0.93[ASN][1000 genomes]
rs3770694	0.94[ASN][1000 genomes]
rs3770695	0.92[ASN][1000 genomes]
rs3770699	0.85[ASN][1000 genomes]
rs3845633	0.94[ASN][1000 genomes]
rs3856339	0.94[ASN][1000 genomes]
rs4673528	0.86[ASN][1000 genomes]
rs4673529	0.86[ASN][1000 genomes]
rs6727182	0.81[ASN][1000 genomes]
rs6756422	0.94[ASN][1000 genomes]
rs725379	0.94[ASN][1000 genomes]
rs72930503	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7578688	0.94[ASN][1000 genomes]
rs7595022	0.94[ASN][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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
2	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:211322400-211340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:211322600-211340400	Weak transcription	K562	blood
7	chr2:211325800-211340800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:211331400-211340400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:211331400-211340400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:211331400-211341000	Weak transcription	Spleen	Spleen
11	chr2:211332000-211340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:211332200-211340400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:211332600-211340400	Weak transcription	Right Ventricle	heart
14	chr2:211333400-211340400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:211333600-211340600	Weak transcription	Psoas Muscle	Psoas
16	chr2:211333600-211340800	Weak transcription	Esophagus	oesophagus
17	chr2:211333600-211340800	Weak transcription	Lung	lung
18	chr2:211333600-211340800	Weak transcription	Pancreas	Pancrea
19	chr2:211333600-211341000	Weak transcription	Gastric	stomach
20	chr2:211334400-211340400	Weak transcription	NHDF-Ad	bronchial
21	chr2:211334400-211340600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:211335000-211340400	Weak transcription	Fetal Heart	heart
23	chr2:211335200-211340800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:211336800-211340400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:211336800-211340400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:211336800-211340400	Weak transcription	Aorta	Aorta
27	chr2:211336800-211340400	Weak transcription	Ovary	ovary
28	chr2:211336800-211340400	Weak transcription	NH-A	brain
29	chr2:211336800-211340600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:211336800-211340600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:211336800-211340600	Weak transcription	Colonic Mucosa	Colon
32	chr2:211336800-211340600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:211336800-211340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:211336800-211340800	Weak transcription	Placenta	Placenta
35	chr2:211336800-211340800	Weak transcription	Left Ventricle	heart
36	chr2:211337000-211340400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:211337000-211340400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:211338000-211340400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:211338000-211340400	Weak transcription	GM12878-XiMat	blood
40	chr2:211338200-211341000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:211338400-211340400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:211338600-211340400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:211339000-211340400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:211339000-211340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:211339000-211340400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:211339000-211340400	Weak transcription	HSMM	muscle
47	chr2:211339400-211340400	Enhancers	Primary T cells from cord blood	blood
48	chr2:211339400-211340600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr2:211339600-211340400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:211339600-211340400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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