Variant report

Variant	rs1134648
Chromosome Location	chr4:107249244-107249245
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:107235692..107241045-chr4:107249153..107254463,7	K562	blood:
2	chr4:107246333..107250100-chr4:107250113..107253546,3	K562	blood:
3	chr4:107246333..107250100-chr4:107250113..107253546,4	K562	blood:
4	chr4:107243504..107246800-chr4:107249107..107253056,3	MCF-7	breast:
5	chr4:107237852..107239774-chr4:107248224..107252167,3	K562	blood:

Variant related genes	Relation type
ENSG00000164022	Chromatin interaction
ENSG00000145348	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10004034	0.95[ASN][1000 genomes]
rs10017707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10025668	0.80[ASN][1000 genomes]
rs10516530	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10516531	0.93[ASN][1000 genomes]
rs11097923	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11938792	0.95[ASN][1000 genomes]
rs12512475	0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17036581	0.93[ASN][1000 genomes]
rs2691805	1.00[ASN][1000 genomes]
rs2691806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2728176	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2728177	1.00[ASN][1000 genomes]
rs28418378	0.80[ASN][1000 genomes]
rs2949626	0.99[ASN][1000 genomes]
rs2949649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2949651	0.94[ASN][1000 genomes]
rs3018057	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3018059	0.99[ASN][1000 genomes]
rs3018067	0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3109950	1.00[ASN][1000 genomes]
rs3109951	1.00[ASN][1000 genomes]
rs3109952	1.00[ASN][1000 genomes]
rs3109954	0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs3109956	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3113246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3113251	1.00[ASN][1000 genomes]
rs3133167	0.98[ASN][1000 genomes]
rs3133172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs34305991	0.94[ASN][1000 genomes]
rs34923623	0.93[ASN][1000 genomes]
rs4415033	0.93[ASN][1000 genomes]
rs4441824	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4560491	0.94[CHB][hapmap];0.95[ASN][1000 genomes]
rs4582218	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57983950	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6533241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6533244	1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs6848855	0.95[ASN][1000 genomes]
rs7442226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7669347	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7677394	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7680756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7694217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9991203	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs9993259	0.93[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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107238600-107258000	Weak transcription	Gastric	stomach
2	chr4:107238600-107258400	Weak transcription	Spleen	Spleen
3	chr4:107238600-107258600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:107238600-107259600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:107238600-107259600	Weak transcription	Pancreas	Pancrea
6	chr4:107238800-107259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:107239000-107252400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:107239000-107252800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:107239000-107259200	Weak transcription	Fetal Brain Male	brain
10	chr4:107239200-107258400	Weak transcription	Aorta	Aorta
11	chr4:107239200-107259400	Weak transcription	Psoas Muscle	Psoas
12	chr4:107239400-107255200	Weak transcription	Stomach Mucosa	stomach
13	chr4:107240800-107253000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:107242200-107258600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:107242800-107257800	Weak transcription	Esophagus	oesophagus
16	chr4:107242800-107258400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:107242800-107259400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:107243400-107257800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:107243400-107258000	Weak transcription	Lung	lung
20	chr4:107243400-107271400	Weak transcription	Right Ventricle	heart
21	chr4:107243800-107259600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:107244000-107255400	Weak transcription	Fetal Stomach	stomach
23	chr4:107244000-107258000	Weak transcription	Small Intestine	intestine
24	chr4:107244200-107250800	Weak transcription	Fetal Intestine Small	intestine
25	chr4:107244200-107258400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:107245600-107259200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:107245800-107257600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr4:107245800-107258400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr4:107245800-107259000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:107245800-107261800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:107245800-107262200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr4:107245800-107263000	Strong transcription	Dnd41	blood
33	chr4:107246000-107250000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:107246000-107251400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:107246000-107258400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:107246000-107262000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr4:107246200-107249600	Strong transcription	Liver	Liver
38	chr4:107246200-107250600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:107246200-107250800	Strong transcription	A549	lung
40	chr4:107246200-107254200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:107246200-107255200	Strong transcription	Fetal Lung	lung
42	chr4:107246200-107262000	Strong transcription	NH-A	brain
43	chr4:107246400-107254800	Strong transcription	Primary B cells from cord blood	blood
44	chr4:107246400-107259400	Strong transcription	Placenta	Placenta
45	chr4:107246600-107256200	Strong transcription	HSMM	muscle
46	chr4:107246600-107256400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:107246800-107251000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:107246800-107260200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:107246800-107260800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:107247000-107249600	Strong transcription	HUVEC	blood vessel

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