Variant report

Variant	rs11881358
Chromosome Location	chr19:36371497-36371498
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:36370204-36371558	A549	lung:	n/a	chr19:36370885-36370895 chr19:36370877-36370897 chr19:36370877-36370890 chr19:36370878-36370896 chr19:36370877-36370897 chr19:36370877-36370886 chr19:36370880-36370893 chr19:36370883-36370897 chr19:36370877-36370897 chr19:36370880-36370893 chr19:36370882-36370891

No.	Distal block	Cell Line	Cell type
1	chr19:36356559..36359184-chr19:36370757..36372368,2	K562	blood:
2	chr19:36370768..36374759-chr19:36390074..36391659,3	MCF-7	breast:
3	chr19:36365053..36367604-chr19:36368904..36371843,2	MCF-7	breast:
4	chr19:36370756..36373249-chr19:36545654..36547165,2	MCF-7	breast:
5	chr19:36359256..36363302-chr19:36368429..36371554,3	K562	blood:
6	chr19:36359233..36364587-chr19:36367940..36372688,7	K562	blood:
7	chr19:36370775..36373541-chr19:36425672..36427378,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL402P	TF binding region
ENSG00000126243	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000075702	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11084834	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11880785	0.83[ASN][1000 genomes]
rs11880909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11881364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11881451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16970735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16970737	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970742	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16970744	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs172985	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17549166	0.81[ASN][1000 genomes]
rs2227909	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2228998	0.89[ASN][1000 genomes]
rs230260	0.95[EUR][1000 genomes]
rs230261	1.00[EUR][1000 genomes]
rs230262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230267	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230268	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs230269	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2871778	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34006827	1.00[EUR][1000 genomes]
rs35423326	1.00[EUR][1000 genomes]
rs376240	1.00[EUR][1000 genomes]
rs392702	0.86[EUR][1000 genomes]
rs393116	1.00[EUR][1000 genomes]
rs401824	0.95[EUR][1000 genomes]
rs404299	1.00[EUR][1000 genomes]
rs412175	0.87[EUR][1000 genomes]
rs417786	0.86[EUR][1000 genomes]
rs437168	0.82[EUR][1000 genomes]
rs443186	1.00[EUR][1000 genomes]
rs447783	0.86[EUR][1000 genomes]
rs4806227	0.85[ASN][1000 genomes]
rs55797913	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55816190	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56264349	0.91[EUR][1000 genomes]
rs57053076	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57113091	0.85[ASN][1000 genomes]
rs57668132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57911093	0.89[ASN][1000 genomes]
rs58098901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58109577	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58291714	0.95[EUR][1000 genomes]
rs58504183	0.81[EUR][1000 genomes]
rs58551711	0.81[EUR][1000 genomes]
rs59123406	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59658571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60268250	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60576074	0.95[EUR][1000 genomes]
rs60869994	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60935148	0.81[EUR][1000 genomes]
rs61623584	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs619833	1.00[EUR][1000 genomes]
rs7251744	1.00[EUR][1000 genomes]
rs7253086	0.81[EUR][1000 genomes]
rs7256433	0.81[EUR][1000 genomes]
rs7258909	1.00[EUR][1000 genomes]
rs73590883	0.85[EUR][1000 genomes]
rs73594463	0.81[EUR][1000 genomes]
rs73599600	0.81[EUR][1000 genomes]
rs73928331	0.90[EUR][1000 genomes]
rs73928332	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73928333	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807660	1.00[EUR][1000 genomes]
rs8106732	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110926	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111209	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111348	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs879407	1.00[EUR][1000 genomes]
rs9749325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9749492	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3397651	chr19:36326933-36377725	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 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	chr19:36360200-36379000	Weak transcription	Aorta	Aorta
2	chr19:36361000-36389000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:36361200-36389200	Weak transcription	Right Atrium	heart
4	chr19:36362000-36373200	Weak transcription	Fetal Brain Male	brain
5	chr19:36362400-36378200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:36362600-36378000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:36366000-36378200	Weak transcription	Gastric	stomach
8	chr19:36367800-36378400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:36369800-36372800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:36370000-36373200	Weak transcription	Brain Angular Gyrus	brain
11	chr19:36370400-36377600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:36370400-36379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:36370400-36379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:36370600-36379000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:36370600-36379000	Weak transcription	NHDF-Ad	bronchial
16	chr19:36370600-36389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:36370800-36373200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:36370800-36377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:36370800-36377800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:36370800-36377800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:36370800-36377800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr19:36370800-36377800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:36370800-36377800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:36370800-36377800	Weak transcription	Adipose Nuclei	Adipose
25	chr19:36370800-36377800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr19:36370800-36377800	Weak transcription	Osteobl	bone
27	chr19:36370800-36378000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:36370800-36378000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:36370800-36378200	Weak transcription	Fetal Intestine Large	intestine
30	chr19:36370800-36378200	Weak transcription	Fetal Intestine Small	intestine
31	chr19:36370800-36378200	Weak transcription	Lung	lung
32	chr19:36370800-36378200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:36370800-36378400	Weak transcription	Placenta	Placenta
34	chr19:36370800-36378400	Weak transcription	GM12878-XiMat	blood
35	chr19:36370800-36378800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:36370800-36378800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr19:36370800-36378800	Weak transcription	Stomach Mucosa	stomach
38	chr19:36370800-36378800	Weak transcription	Dnd41	blood
39	chr19:36370800-36379000	Weak transcription	Liver	Liver
40	chr19:36370800-36379000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr19:36370800-36379000	Weak transcription	Fetal Lung	lung
42	chr19:36370800-36379400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:36370800-36389200	Weak transcription	HSMM	muscle
44	chr19:36370800-36389400	Weak transcription	HUVEC	blood vessel
45	chr19:36370800-36389400	Weak transcription	NH-A	brain
46	chr19:36371000-36377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:36371000-36377800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:36371000-36377800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:36371000-36377800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:36371000-36377800	Weak transcription	Spleen	Spleen

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