Variant report

Variant	rs4972814
Chromosome Location	chr2:173244730-173244731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173238964..173242268-chr2:173243569..173246875,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10207752	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10930552	0.94[EUR][1000 genomes]
rs10930553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677757	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687888	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997279	0.80[AMR][1000 genomes]
rs13020542	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027402	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13028213	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4972815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972817	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972818	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972819	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173239200-173260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173239800-173245400	Weak transcription	Fetal Kidney	kidney
3	chr2:173240400-173245000	Weak transcription	HSMMtube	muscle
4	chr2:173240800-173244800	Weak transcription	Fetal Intestine Large	intestine
5	chr2:173241000-173245400	Weak transcription	Gastric	stomach
6	chr2:173241200-173244800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:173242000-173245200	Weak transcription	Stomach Mucosa	stomach
8	chr2:173242200-173244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:173242400-173245000	Weak transcription	HUVEC	blood vessel
10	chr2:173242600-173245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:173242600-173245400	Weak transcription	Left Ventricle	heart
12	chr2:173242800-173244800	Weak transcription	Spleen	Spleen
13	chr2:173242800-173245200	Weak transcription	Pancreas	Pancrea
14	chr2:173242800-173245600	Weak transcription	Right Atrium	heart
15	chr2:173243400-173245200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:173243800-173245200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:173243800-173245400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:173243800-173246800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:173243800-173247400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:173244200-173244800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:173244200-173245000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:173244200-173245200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:173244200-173245400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:173244400-173244800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:173244400-173244800	Weak transcription	HepG2	liver
26	chr2:173244400-173245000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:173244400-173245000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:173244400-173245000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:173244400-173247000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:173244400-173247200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:173244600-173244800	Flanking Active TSS	Liver	Liver
32	chr2:173244600-173245000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:173244600-173245000	Weak transcription	Fetal Intestine Small	intestine
34	chr2:173244600-173245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:173244600-173245800	Enhancers	Fetal Muscle Trunk	muscle
36	chr2:173244600-173254400	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links