Variant report

Variant	rs12982672
Chromosome Location	chr19:36268471-36268472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36247584..36253409-chr19:36264102..36268750,7	K562	blood:
2	chr19:36255893..36262036-chr19:36262850..36268803,8	MCF-7	breast:
3	chr19:36267110..36269446-chr19:36272334..36274173,2	K562	blood:
4	chr19:36103075..36105092-chr19:36267150..36269666,2	K562	blood:
5	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
6	chr19:36266545..36269722-chr19:36286322..36289805,3	K562	blood:
7	chr19:36266549..36268656-chr19:36368007..36369573,2	K562	blood:
8	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267049	Chromatin interaction
ENSG00000225872	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000267626	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000249115	Chromatin interaction
ENSG00000167595	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10419971	0.92[CEU][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.90[EUR][1000 genomes]
rs11881839	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs12980561	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12983479	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16970586	0.85[YRI][hapmap]
rs231225	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs231233	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]
rs28504613	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34190650	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35067626	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35178229	0.96[EUR][1000 genomes]
rs4805139	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4806203	0.89[EUR][1000 genomes]
rs4806206	0.81[ASN][1000 genomes]
rs7252936	0.83[AFR][1000 genomes]
rs73032130	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36266800-36268600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:36266800-36281800	Weak transcription	Liver	Liver
3	chr19:36267000-36268800	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr19:36267000-36268800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr19:36267000-36268800	Flanking Active TSS	HepG2	liver
6	chr19:36267000-36270400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:36267000-36271000	Weak transcription	Aorta	Aorta
8	chr19:36267000-36274200	Weak transcription	HSMMtube	muscle
9	chr19:36267000-36274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:36267200-36268600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:36267200-36268600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:36267200-36268600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:36267200-36268800	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr19:36267200-36269000	Weak transcription	Lung	lung
15	chr19:36267400-36268600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:36267400-36268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:36267400-36268800	Weak transcription	Ovary	ovary
18	chr19:36267400-36269000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr19:36267400-36269000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr19:36267400-36269000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:36267400-36269200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:36267400-36269600	Weak transcription	NHEK	skin
23	chr19:36267400-36269800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:36267400-36270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:36267400-36270800	Weak transcription	Right Ventricle	heart
26	chr19:36267400-36271000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:36267400-36271000	Weak transcription	Adipose Nuclei	Adipose
28	chr19:36267400-36271000	Weak transcription	Esophagus	oesophagus
29	chr19:36267400-36271000	Weak transcription	Gastric	stomach
30	chr19:36267400-36271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:36267400-36271600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:36267400-36272000	Weak transcription	Primary T cells from cord blood	blood
33	chr19:36267400-36272200	Weak transcription	Left Ventricle	heart
34	chr19:36267400-36272200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:36267400-36272400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:36267400-36272600	Weak transcription	Colonic Mucosa	Colon
37	chr19:36267400-36273400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:36267400-36273400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:36267400-36275200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:36267400-36275400	Weak transcription	Primary B cells from cord blood	blood
41	chr19:36267400-36276000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:36267400-36276000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:36267400-36277600	Weak transcription	Right Atrium	heart
44	chr19:36267400-36277800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:36267400-36281600	Weak transcription	Small Intestine	intestine
46	chr19:36267600-36268600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:36267600-36268600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:36267600-36268800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr19:36267600-36268800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:36267600-36268800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain

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