Variant report

Variant	rs231233
Chromosome Location	chr19:36271139-36271140
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	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000004776	Chromatin interaction
ENSG00000167595	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10419971	1.00[CEU][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs11881839	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.84[LWK][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs12980561	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12982672	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12983479	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs231225	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs231228	0.90[LWK][hapmap]
rs28504613	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34190650	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35067626	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35178229	0.97[EUR][1000 genomes]
rs4805139	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4806203	0.90[EUR][1000 genomes]
rs4806206	0.82[ASN][1000 genomes]
rs73032130	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36266800-36281800	Weak transcription	Liver	Liver
2	chr19:36267000-36274200	Weak transcription	HSMMtube	muscle
3	chr19:36267000-36274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:36267400-36271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr19:36267400-36271600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:36267400-36272000	Weak transcription	Primary T cells from cord blood	blood
7	chr19:36267400-36272200	Weak transcription	Left Ventricle	heart
8	chr19:36267400-36272200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:36267400-36272400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:36267400-36272600	Weak transcription	Colonic Mucosa	Colon
11	chr19:36267400-36273400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:36267400-36273400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:36267400-36275200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:36267400-36275400	Weak transcription	Primary B cells from cord blood	blood
15	chr19:36267400-36276000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:36267400-36276000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:36267400-36277600	Weak transcription	Right Atrium	heart
18	chr19:36267400-36277800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:36267400-36281600	Weak transcription	Small Intestine	intestine
20	chr19:36267600-36272000	Weak transcription	Placenta	Placenta
21	chr19:36267600-36273000	Weak transcription	Osteobl	bone
22	chr19:36267600-36275400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:36267600-36279200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:36267800-36271400	Weak transcription	NHLF	lung
25	chr19:36267800-36272200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr19:36267800-36276400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr19:36267800-36278000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:36267800-36280600	Weak transcription	HUVEC	blood vessel
29	chr19:36267800-36284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:36268000-36275200	Weak transcription	Colon Smooth Muscle	Colon
31	chr19:36268200-36272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:36268200-36274800	Weak transcription	NH-A	brain
33	chr19:36268400-36271600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr19:36268400-36274400	Strong transcription	Fetal Intestine Small	intestine
35	chr19:36268400-36278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:36268400-36278600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:36268400-36284200	Weak transcription	K562	blood
38	chr19:36268600-36271800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:36268600-36272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:36268600-36274200	Strong transcription	Fetal Lung	lung
41	chr19:36268600-36274600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:36268600-36275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:36268600-36277600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:36268600-36279200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:36268600-36279400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:36268600-36279600	Strong transcription	Thymus	Thymus
47	chr19:36268600-36281000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr19:36268600-36281000	Strong transcription	Fetal Stomach	stomach
49	chr19:36268800-36273800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:36268800-36274400	Strong transcription	Ovary	ovary

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