Variant report

Variant	rs2038052
Chromosome Location	chr1:209999764-209999765
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr1:209999283-209999998	A549	lung:	n/a	n/a
2	JUND	chr1:209999388-209999829	K562	blood:	n/a	n/a
3	MAZ	chr1:209999414-209999919	K562	blood:	n/a	n/a
4	NR2F2	chr1:209999300-209999838	MCF-7	breast:	n/a	n/a
5	ATF1	chr1:209999418-209999768	K562	blood:	n/a	n/a
6	FOSL2	chr1:209999349-209999813	A549	lung:	n/a	n/a
7	FOSL2	chr1:209999418-209999783	MCF-7	breast:	n/a	n/a
8	TEAD4	chr1:209999351-209999849	K562	blood:	n/a	n/a
9	TAL1	chr1:209999495-209999782	K562	blood:	n/a	n/a
10	ZMIZ1	chr1:209999330-209999811	K562	blood:	n/a	n/a
11	MAFK	chr1:209999377-210000007	K562	blood:	n/a	n/a
12	MAX	chr1:209999488-209999846	K562	blood:	n/a	n/a
13	RCOR1	chr1:209999514-209999806	K562	blood:	n/a	n/a
14	KAP1	chr1:209999476-210000311	K562	blood:	n/a	n/a
15	MAX	chr1:209999361-209999787	K562	blood:	n/a	n/a
16	FOXA2	chr1:209999346-209999769	A549	lung:	n/a	n/a
17	EP300	chr1:209999416-209999782	K562	blood:	n/a	n/a
18	GATA3	chr1:209999265-209999834	MCF-7	breast:	n/a	n/a
19	GATA3	chr1:209999301-210000023	MCF-7	breast:	n/a	n/a
20	MAFF	chr1:209999504-209999855	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209999396..210002885-chr1:210546190..210548808,3	K562	blood:
2	chr1:209995353..209998573-chr1:209998823..210001196,6	K562	blood:
3	chr1:209998062..210000202-chr15:93873706..93875206,2	K562	blood:
4	chr1:209977871..209984485-chr1:209998424..210002427,6	K562	blood:
5	chr1:209991325..209994197-chr1:209997349..210000501,3	K562	blood:
6	chr1:209977871..209981214-chr1:209999703..210002866,6	K562	blood:
7	chr1:209999584..210001298-chr1:210028865..210031163,2	K562	blood:
8	chr1:209991113..209993100-chr1:209999001..210001316,2	K562	blood:
9	chr1:209977911..209983292-chr1:209996386..210001078,7	MCF-7	breast:
10	chr1:209839849..209842808-chr1:209998305..210001255,2	K562	blood:

No data

Variant related genes	Relation type
DIEXF	TF binding region
ENSG00000117595	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10863796	1.00[EUR][1000 genomes]
rs10863801	1.00[EUR][1000 genomes]
rs11119360	1.00[EUR][1000 genomes]
rs11119361	1.00[EUR][1000 genomes]
rs11119362	1.00[EUR][1000 genomes]
rs11119372	1.00[EUR][1000 genomes]
rs11119391	1.00[EUR][1000 genomes]
rs12064990	1.00[EUR][1000 genomes]
rs12065575	1.00[EUR][1000 genomes]
rs12069592	1.00[EUR][1000 genomes]
rs12079812	1.00[EUR][1000 genomes]
rs12403002	1.00[EUR][1000 genomes]
rs12407647	1.00[EUR][1000 genomes]
rs2130625	1.00[EUR][1000 genomes]
rs4844498	1.00[EUR][1000 genomes]
rs4844507	1.00[EUR][1000 genomes]
rs4844924	1.00[EUR][1000 genomes]
rs4844928	1.00[EUR][1000 genomes]
rs4844936	1.00[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209992600-210000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:209996000-210000800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:209996600-210000400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:209996600-210000800	Weak transcription	Liver	Liver
5	chr1:209996600-210000800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:209996600-210000800	Enhancers	HMEC	breast
7	chr1:209996800-210000600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:209996800-210000800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:209996800-210000800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:209997000-210000000	Weak transcription	Dnd41	blood
11	chr1:209997000-210000600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:209997000-210000600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:209997000-210000800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:209997000-210000800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:209997000-210000800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:209997000-210000800	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:209997000-210000800	Weak transcription	Fetal Heart	heart
18	chr1:209997200-210000800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:209997200-210000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:209997200-210000800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:209997200-210000800	Weak transcription	Hela-S3	cervix
22	chr1:209997200-210000800	Weak transcription	HSMM	muscle
23	chr1:209997200-210001000	Weak transcription	Gastric	stomach
24	chr1:209997400-210000600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:209997400-210000800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:209997400-210000800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:209997400-210000800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:209997400-210000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:209997400-210000800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:209997400-210000800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:209997400-210000800	Weak transcription	Adipose Nuclei	Adipose
32	chr1:209997400-210000800	Weak transcription	Left Ventricle	heart
33	chr1:209997400-210000800	Weak transcription	NH-A	brain
34	chr1:209997400-210000800	Weak transcription	NHDF-Ad	bronchial
35	chr1:209997600-210000800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:209997600-210000800	Weak transcription	Osteobl	bone
37	chr1:209997800-209999800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:209998200-210000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:209998400-210000800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:209998600-210000600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:209998600-210000600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:209998800-210000800	Enhancers	Fetal Intestine Large	intestine
43	chr1:209998800-210000800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:209999000-210000800	Enhancers	Fetal Intestine Small	intestine
45	chr1:209999200-210000000	Enhancers	Stomach Mucosa	stomach
46	chr1:209999200-210000000	Enhancers	HSMMtube	muscle
47	chr1:209999200-210000600	Enhancers	HepG2	liver
48	chr1:209999400-209999800	Flanking Active TSS	K562	blood
49	chr1:209999400-209999800	Flanking Active TSS	NHEK	skin
50	chr1:209999400-210000400	Enhancers	A549	lung

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