Variant report

Variant	rs17355550
Chromosome Location	chr4:120416096-120416097
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	chr4:120415776..120419919-chr4:120421483..120424125,5	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10518332	1.00[CEU][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10518333	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs12331661	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13306357	1.00[CEU][hapmap]
rs1397614	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs17007472	0.93[AMR][1000 genomes]
rs17051276	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17051278	0.82[EUR][1000 genomes]
rs17357002	0.93[AMR][1000 genomes]
rs17357499	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17358475	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17595398	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4102980	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41278071	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4146266	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs58735454	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv879844	chr4:120341296-120449810	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv879847	chr4:120371729-120450159	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	esv1802153	chr4:120397829-120457682	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv879848	chr4:120408931-120433807	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120376600-120419200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:120377200-120416200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:120377200-120419600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:120377200-120433800	Weak transcription	Gastric	stomach
6	chr4:120377400-120416200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:120377400-120439000	Weak transcription	Small Intestine	intestine
8	chr4:120377400-120439000	Weak transcription	Spleen	Spleen
9	chr4:120377600-120441000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
11	chr4:120384400-120439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:120384600-120416200	Weak transcription	Fetal Brain Male	brain
13	chr4:120390800-120419800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:120393200-120419800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:120397800-120416400	Weak transcription	HSMMtube	muscle
16	chr4:120397800-120442600	Weak transcription	Hela-S3	cervix
17	chr4:120398200-120419600	Weak transcription	Fetal Stomach	stomach
18	chr4:120398800-120420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:120399200-120431200	Weak transcription	Fetal Heart	heart
20	chr4:120401200-120416200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:120401400-120419600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:120401400-120419800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:120401600-120419400	Weak transcription	Brain Angular Gyrus	brain
24	chr4:120401600-120433800	Weak transcription	Right Ventricle	heart
25	chr4:120401800-120416200	Weak transcription	Aorta	Aorta
26	chr4:120401800-120416200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:120401800-120419000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:120401800-120419600	Weak transcription	Lung	lung
29	chr4:120401800-120433400	Weak transcription	Psoas Muscle	Psoas
30	chr4:120402400-120416200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:120402400-120430400	Weak transcription	Ovary	ovary
32	chr4:120403400-120445800	Weak transcription	A549	lung
33	chr4:120404000-120419400	Weak transcription	Fetal Kidney	kidney
34	chr4:120404000-120419800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:120404400-120416400	Weak transcription	K562	blood
36	chr4:120404400-120419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:120404600-120419000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:120404800-120416200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:120406400-120416200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:120408400-120416200	Weak transcription	Fetal Brain Female	brain
41	chr4:120408400-120416800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:120408400-120433800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:120409400-120416200	Weak transcription	Fetal Intestine Large	intestine
44	chr4:120409800-120419600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:120410200-120419600	Weak transcription	HMEC	breast
46	chr4:120410400-120419600	Weak transcription	Fetal Intestine Small	intestine
47	chr4:120410600-120418400	Weak transcription	Colonic Mucosa	Colon
48	chr4:120410600-120419600	Weak transcription	Thymus	Thymus
49	chr4:120410800-120419000	Weak transcription	Left Ventricle	heart
50	chr4:120412600-120422200	Strong transcription	Dnd41	blood

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