Variant report

Variant	rs13134635
Chromosome Location	chr4:175241585-175241586
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175201466..175203946-chr4:175240301..175242969,2	K562	blood:
2	chr4:175201466..175204098-chr4:175240301..175242969,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10434410	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10520278	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10520279	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13122347	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13137178	0.94[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap]
rs1396193	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17060428	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17060454	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35190385	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35593724	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36081616	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62335793	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62335798	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6553781	1.00[JPT][hapmap]
rs66919862	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72621998	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7671444	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs7684619	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs906569	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs906570	0.94[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs9715080	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175205600-175241600	Weak transcription	Small Intestine	intestine
2	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:175207000-175242000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:175214600-175241600	Weak transcription	Lung	lung
5	chr4:175214600-175241600	Weak transcription	Thymus	Thymus
6	chr4:175214600-175241800	Weak transcription	Pancreas	Pancrea
7	chr4:175214600-175242000	Weak transcription	Brain Substantia Nigra	brain
8	chr4:175214600-175243200	Weak transcription	Ovary	ovary
9	chr4:175214600-175244800	Weak transcription	Psoas Muscle	Psoas
10	chr4:175214600-175245400	Weak transcription	HSMM	muscle
11	chr4:175214600-175254800	Weak transcription	Esophagus	oesophagus
12	chr4:175215200-175241600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:175215200-175242600	Weak transcription	GM12878-XiMat	blood
14	chr4:175217600-175241600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:175218600-175242000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:175219000-175242800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:175222400-175242000	Weak transcription	Fetal Intestine Small	intestine
18	chr4:175225400-175241800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:175225800-175241600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:175230000-175245800	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:175230600-175241600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:175230600-175242800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:175230800-175246200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:175231800-175243200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:175232400-175247000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:175233800-175252600	Weak transcription	Left Ventricle	heart
27	chr4:175233800-175255800	Weak transcription	Fetal Intestine Large	intestine
28	chr4:175234000-175241800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:175234600-175241600	Weak transcription	Fetal Lung	lung
30	chr4:175236200-175242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:175236200-175258400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:175236400-175245400	Weak transcription	NHDF-Ad	bronchial
33	chr4:175236600-175242600	Weak transcription	A549	lung
34	chr4:175237200-175242000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:175237200-175242400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:175237400-175241800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:175237400-175242000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr4:175237800-175245600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:175238000-175241800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:175238000-175242800	Weak transcription	Placenta	Placenta
41	chr4:175238000-175243000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:175238000-175243400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:175238000-175243400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:175238000-175244800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:175238000-175254800	Weak transcription	Adipose Nuclei	Adipose
46	chr4:175238000-175255400	Weak transcription	Primary B cells from cord blood	blood
47	chr4:175239000-175241600	Weak transcription	HUVEC	blood vessel
48	chr4:175239200-175241600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:175239200-175241800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:175239200-175242400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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