Variant report

Variant	rs11672227
Chromosome Location	chr19:41276886-41276887
allele	C/T
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	POLR2A	chr19:41276719-41277315	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:41276783-41276949	K562	blood:	n/a	n/a
3	POLR2A	chr19:41276795-41277456	SK-N-MC	brain:	n/a	n/a
4	CEBPB	chr19:41276725-41276930	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:
2	chr19:41274913..41277025-chr19:41302657..41305848,3	K562	blood:
3	chr19:41267917..41272263-chr19:41274538..41279747,5	K562	blood:

Variant related genes	Relation type
MIA	TF binding region
MIA-RAB4B	TF binding region
ENSG00000167578	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000077312	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11665867	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665953	1.00[ASN][1000 genomes]
rs11666504	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667119	1.00[ASN][1000 genomes]
rs11667931	1.00[ASN][1000 genomes]
rs11668042	1.00[ASN][1000 genomes]
rs11672651	1.00[ASN][1000 genomes]
rs2077407	1.00[ASN][1000 genomes]
rs36012476	1.00[ASN][1000 genomes]
rs4435368	1.00[ASN][1000 genomes]
rs4624303	1.00[ASN][1000 genomes]
rs55652103	1.00[ASN][1000 genomes]
rs55658896	1.00[ASN][1000 genomes]
rs55723406	1.00[ASN][1000 genomes]
rs55856492	1.00[ASN][1000 genomes]
rs56041558	1.00[ASN][1000 genomes]
rs56140728	1.00[ASN][1000 genomes]
rs7253575	1.00[ASN][1000 genomes]
rs7258772	1.00[ASN][1000 genomes]
rs7259121	1.00[ASN][1000 genomes]
rs73035918	1.00[ASN][1000 genomes]
rs73047051	1.00[ASN][1000 genomes]
rs73047068	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047073	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047085	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047100	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048915	1.00[ASN][1000 genomes]
rs73048925	1.00[ASN][1000 genomes]
rs8106578	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
2	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
3	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41260600-41277200	Strong transcription	Fetal Brain Female	brain
3	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:41261800-41278200	Strong transcription	Fetal Stomach	stomach
5	chr19:41261800-41282800	Weak transcription	Right Atrium	heart
6	chr19:41264600-41278000	Strong transcription	A549	lung
7	chr19:41270400-41282600	Weak transcription	Fetal Brain Male	brain
8	chr19:41271800-41279800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:41271800-41279800	Weak transcription	HMEC	breast
10	chr19:41271800-41282600	Weak transcription	Fetal Kidney	kidney
11	chr19:41271800-41282600	Weak transcription	HSMM	muscle
12	chr19:41271800-41283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:41272000-41279400	Weak transcription	Ovary	ovary
14	chr19:41272000-41280400	Weak transcription	NHEK	skin
15	chr19:41272000-41280600	Weak transcription	NH-A	brain
16	chr19:41272000-41281200	Weak transcription	Osteobl	bone
17	chr19:41272000-41282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:41272000-41282600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:41272000-41282600	Weak transcription	Brain Angular Gyrus	brain
20	chr19:41272000-41282600	Weak transcription	HUVEC	blood vessel
21	chr19:41272000-41282800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:41272000-41282800	Weak transcription	Psoas Muscle	Psoas
23	chr19:41272000-41282800	Weak transcription	Small Intestine	intestine
24	chr19:41272000-41282800	Weak transcription	NHDF-Ad	bronchial
25	chr19:41272200-41277000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:41272200-41277000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:41272200-41280800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:41272200-41280800	Weak transcription	Stomach Mucosa	stomach
29	chr19:41272200-41281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:41272200-41281200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:41272200-41281200	Weak transcription	K562	blood
32	chr19:41272200-41282600	Weak transcription	Fetal Lung	lung
33	chr19:41272200-41282600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr19:41272200-41282600	Weak transcription	Dnd41	blood
35	chr19:41272200-41282600	Weak transcription	HSMMtube	muscle
36	chr19:41272200-41282600	Weak transcription	NHLF	lung
37	chr19:41272200-41282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:41272200-41282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:41272200-41282800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:41272200-41282800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:41272200-41282800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr19:41272200-41282800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:41272200-41282800	Weak transcription	Aorta	Aorta
44	chr19:41272200-41282800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr19:41272200-41282800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:41272200-41282800	Weak transcription	Brain Substantia Nigra	brain
47	chr19:41272200-41282800	Weak transcription	Esophagus	oesophagus
48	chr19:41272200-41282800	Weak transcription	Gastric	stomach
49	chr19:41272200-41282800	Weak transcription	Left Ventricle	heart
50	chr19:41272200-41282800	Weak transcription	Rectal Smooth Muscle	rectum

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