Variant report

Variant	rs73924975
Chromosome Location	chr2:37310251-37310252
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	MXI1	chr2:37310017-37312964	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37192443..37195662-chr2:37309226..37313144,4	K562	blood:
2	chr2:37303145..37307773-chr2:37309967..37312516,4	MCF-7	breast:
3	chr2:37310057..37313374-chr2:37313742..37317078,6	K562	blood:

Variant related genes	Relation type
GPATCH11	TF binding region
ENSG00000152133	Chromatin interaction
ENSG00000008869	Chromatin interaction
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10153588	1.00[EUR][1000 genomes]
rs11124559	1.00[EUR][1000 genomes]
rs11904027	1.00[AMR][1000 genomes]
rs2307477	1.00[EUR][1000 genomes]
rs2540993	1.00[EUR][1000 genomes]
rs2540994	1.00[EUR][1000 genomes]
rs2888443	1.00[EUR][1000 genomes]
rs4503966	1.00[EUR][1000 genomes]
rs4670653	1.00[EUR][1000 genomes]
rs4670654	1.00[EUR][1000 genomes]
rs6709976	1.00[EUR][1000 genomes]
rs6743906	1.00[EUR][1000 genomes]
rs73927404	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:37292200-37310800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:37293400-37310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:37293400-37310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:37297400-37310800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:37297600-37310400	Weak transcription	Pancreas	Pancrea
7	chr2:37297600-37310800	Weak transcription	Lung	lung
8	chr2:37302600-37310800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:37302800-37310400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:37302800-37310400	Weak transcription	Fetal Kidney	kidney
11	chr2:37303600-37310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:37303800-37310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:37304800-37310600	Weak transcription	Aorta	Aorta
14	chr2:37304800-37310600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:37305000-37310400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:37305600-37310800	Weak transcription	Left Ventricle	heart
17	chr2:37305800-37310400	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr2:37306400-37310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:37306400-37310600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:37306400-37310600	Weak transcription	HSMM	muscle
21	chr2:37306800-37310600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:37307800-37310600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:37308000-37310400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:37308200-37310600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:37308600-37310400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr2:37308600-37310400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:37308600-37310400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:37308800-37310400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:37308800-37310600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:37308800-37310600	Enhancers	Colon Smooth Muscle	Colon
31	chr2:37308800-37313200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:37309000-37310400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:37309200-37310400	Weak transcription	HSMMtube	muscle
34	chr2:37309400-37310400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:37309400-37310400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:37309600-37310400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:37309600-37310400	Enhancers	Brain Substantia Nigra	brain
38	chr2:37309600-37310400	Enhancers	Ovary	ovary
39	chr2:37309600-37310400	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:37309600-37310400	Enhancers	NHEK	skin
41	chr2:37309600-37310600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr2:37309600-37310600	Enhancers	Liver	Liver
43	chr2:37309600-37311000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr2:37309600-37311000	Flanking Active TSS	Dnd41	blood
45	chr2:37309800-37310400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:37309800-37310400	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:37309800-37310400	Enhancers	Right Ventricle	heart
48	chr2:37309800-37310400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:37309800-37310600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr2:37309800-37310600	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links