Variant report

Variant	rs3748934
Chromosome Location	chr2:101009908-101009909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101003802..101007409-chr2:101009327..101011119,3	K562	blood:
2	chr2:101004553..101007119-chr2:101009350..101012727,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10165326	0.89[ASN][1000 genomes]
rs10172841	0.85[CHD][hapmap]
rs10186689	0.81[ASN][1000 genomes]
rs10188009	0.81[ASN][1000 genomes]
rs10191099	0.81[ASN][1000 genomes]
rs10192741	0.81[ASN][1000 genomes]
rs10194087	0.81[ASN][1000 genomes]
rs10194280	0.81[ASN][1000 genomes]
rs10207566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10210458	0.81[ASN][1000 genomes]
rs1057056	0.85[CHD][hapmap]
rs1124009	0.85[CHD][hapmap]
rs11899975	0.81[ASN][1000 genomes]
rs11902829	0.92[ASN][1000 genomes]
rs13400841	0.85[CHD][hapmap]
rs13415850	0.81[ASN][1000 genomes]
rs1465829	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[ASN][1000 genomes]
rs17024023	0.81[ASN][1000 genomes]
rs17024153	0.96[ASN][1000 genomes]
rs17024203	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[ASN][1000 genomes]
rs17024207	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[ASN][1000 genomes]
rs17024209	0.85[CHD][hapmap]
rs1992174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2309799	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2309801	0.85[CHD][hapmap]
rs28485289	0.81[ASN][1000 genomes]
rs28631885	0.81[ASN][1000 genomes]
rs2871338	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs3748936	0.85[CHD][hapmap]
rs3791358	0.85[CHD][hapmap]
rs4149509	0.85[CHD][hapmap]
rs4149514	0.85[CHD][hapmap]
rs4149515	0.85[CHD][hapmap]
rs4149522	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57699256	0.81[ASN][1000 genomes]
rs57758873	0.92[ASN][1000 genomes]
rs58397194	0.92[ASN][1000 genomes]
rs58552292	0.88[ASN][1000 genomes]
rs58742261	0.88[ASN][1000 genomes]
rs59193721	0.81[ASN][1000 genomes]
rs59388202	1.00[ASN][1000 genomes]
rs60458261	0.81[ASN][1000 genomes]
rs61429123	0.81[ASN][1000 genomes]
rs62148364	0.84[ASN][1000 genomes]
rs6542928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6725672	0.85[CHD][hapmap]
rs6734881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6754869	0.85[CHD][hapmap]
rs6758622	0.85[CHD][hapmap]
rs72960174	0.86[ASN][1000 genomes]
rs7567130	1.00[CHB][hapmap]
rs7571659	0.85[CHD][hapmap]
rs7575422	0.85[CHD][hapmap]
rs995133	1.00[CHB][hapmap]

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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv874701	chr2:100976139-101023261	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100993200-101017800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:100998200-101022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:100998400-101010000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr2:101002000-101023400	Weak transcription	Psoas Muscle	Psoas
5	chr2:101002400-101012000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:101003200-101021000	Weak transcription	K562	blood
7	chr2:101005200-101015000	Strong transcription	Fetal Brain Female	brain
8	chr2:101005600-101017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
10	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:101006000-101021600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:101006400-101018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:101006600-101023600	Strong transcription	Brain Germinal Matrix	brain
14	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
15	chr2:101006800-101014800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:101007000-101025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:101007000-101027200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr2:101007200-101011200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:101007200-101015400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:101007200-101018600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
22	chr2:101007400-101010800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:101007400-101011800	Weak transcription	Fetal Intestine Large	intestine
24	chr2:101007400-101014600	Strong transcription	Brain Cingulate Gyrus	brain
25	chr2:101007400-101014800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:101007400-101021600	Weak transcription	HSMMtube	muscle
27	chr2:101007600-101010400	Strong transcription	Left Ventricle	heart
28	chr2:101007600-101012800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr2:101007600-101013600	Strong transcription	Adipose Nuclei	Adipose
30	chr2:101007600-101013800	Strong transcription	Thymus	Thymus
31	chr2:101007600-101014800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:101007600-101014800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:101007600-101014800	Strong transcription	Fetal Intestine Small	intestine
34	chr2:101007600-101015000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:101007600-101015400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:101007600-101023400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:101007600-101024200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:101007600-101030600	Weak transcription	NH-A	brain
39	chr2:101007800-101014400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:101007800-101014800	Strong transcription	Brain Anterior Caudate	brain
41	chr2:101007800-101014800	Strong transcription	Ovary	ovary
42	chr2:101007800-101015000	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:101007800-101021200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:101007800-101023800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr2:101007800-101024000	Weak transcription	Liver	Liver
46	chr2:101008000-101011000	Strong transcription	Fetal Lung	lung
47	chr2:101008000-101013800	Strong transcription	Primary T cells from cord blood	blood
48	chr2:101008000-101014000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:101008000-101014600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr2:101008000-101014600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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