Variant report

Variant	rs73995952
Chromosome Location	chr2:234354247-234354248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234354102-234354291	A549	lung:	n/a	n/a
2	POLR2A	chr2:234354012-234354343	A549	lung:	n/a	n/a
3	POLR2A	chr2:234351682-234359750	A549	lung:	n/a	n/a
4	POLR2A	chr2:234354039-234354374	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:234354033-234354426	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234354190..234356333-chr2:234713858..234715623,2	MCF-7	breast:
2	chr2:234345065..234347659-chr2:234353598..234356186,2	MCF-7	breast:
3	chr2:234352679..234354411-chr2:234356405..234357937,2	MCF-7	breast:
4	chr2:234347830..234350206-chr2:234354094..234355617,2	MCF-7	breast:

No data

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56836072	0.95[AFR][1000 genomes]
rs58963596	1.00[AFR][1000 genomes]
rs60732790	0.91[AFR][1000 genomes]
rs6709877	0.91[AFR][1000 genomes]
rs6732036	0.95[AFR][1000 genomes]
rs73995925	0.95[AFR][1000 genomes]
rs73995926	0.95[AFR][1000 genomes]
rs73995943	0.95[AFR][1000 genomes]
rs73995953	1.00[AFR][1000 genomes]
rs73995954	1.00[AFR][1000 genomes]
rs73997605	0.91[AFR][1000 genomes]
rs73997609	0.95[AFR][1000 genomes]
rs73997632	0.86[AFR][1000 genomes]
rs73997636	0.86[AFR][1000 genomes]
rs7562104	0.86[AFR][1000 genomes]
rs7594222	0.95[AFR][1000 genomes]
rs7599218	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:234338000-234358000	Weak transcription	NH-A	brain
4	chr2:234338400-234362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:234338800-234360800	Weak transcription	HMEC	breast
6	chr2:234339200-234360000	Weak transcription	K562	blood
7	chr2:234339600-234354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
9	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
10	chr2:234341600-234357400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:234341800-234354800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:234342800-234354800	Weak transcription	Fetal Kidney	kidney
13	chr2:234342800-234358000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
15	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:234343400-234357400	Strong transcription	Fetal Intestine Small	intestine
18	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:234343600-234357600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:234343600-234359400	Strong transcription	Lung	lung
21	chr2:234344000-234357600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:234344000-234366200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
26	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:234345200-234357200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:234345800-234357000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:234346200-234358200	Strong transcription	Spleen	Spleen
31	chr2:234346400-234355200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:234346400-234356800	Weak transcription	NHLF	lung
33	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:234346800-234354600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:234346800-234356400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:234346800-234358000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:234347000-234354600	Weak transcription	NHEK	skin
38	chr2:234347000-234357400	Weak transcription	Fetal Lung	lung
39	chr2:234347000-234359600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:234347200-234354800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:234347200-234358000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:234348000-234354800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:234348000-234370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:234348400-234355200	Weak transcription	Ovary	ovary
45	chr2:234348400-234356800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr2:234348400-234360800	Weak transcription	Osteobl	bone
47	chr2:234348400-234362800	Weak transcription	Right Atrium	heart
48	chr2:234348400-234363400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:234350200-234360000	Genic enhancers	A549	lung
50	chr2:234350200-234377600	Strong transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links