Variant report

Variant	rs34719836
Chromosome Location	chr12:122217559-122217560
allele	C/T
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	chr12:122216844..122219009-chr12:122328314..122331162,2	K562	blood:
2	chr12:122214229..122218603-chr12:122325636..122328202,4	MCF-7	breast:
3	chr12:122216201..122218544-chr12:122220514..122222536,2	K562	blood:
4	chr12:122215351..122218115-chr12:122220558..122222536,3	K562	blood:
5	chr12:122216581..122218765-chr12:122219403..122221969,2	MCF-7	breast:
6	chr12:121935059..121936948-chr12:122215760..122217685,2	MCF-7	breast:
7	chr12:122217066..122219995-chr12:122220346..122223627,4	MCF-7	breast:
8	chr12:122209251..122211627-chr12:122216844..122219191,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110801	Chromatin interaction
ENSG00000256950	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28685863	1.00[EUR][1000 genomes]
rs3741589	1.00[EUR][1000 genomes];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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription 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 miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
2	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:122206600-122219400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:122206600-122219400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:122206600-122219400	Weak transcription	Osteobl	bone
7	chr12:122206600-122219600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:122206600-122220000	Weak transcription	Brain Anterior Caudate	brain
9	chr12:122206600-122226400	Weak transcription	Aorta	Aorta
10	chr12:122208400-122219600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:122211400-122218200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:122211400-122219400	Weak transcription	K562	blood
13	chr12:122211600-122219200	Strong transcription	Fetal Stomach	stomach
14	chr12:122211600-122219400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:122211600-122225000	Weak transcription	Psoas Muscle	Psoas
16	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:122211800-122218600	Weak transcription	NHEK	skin
18	chr12:122211800-122219000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:122211800-122219000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:122211800-122219000	Weak transcription	NH-A	brain
21	chr12:122211800-122219200	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:122211800-122219400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:122211800-122219400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:122211800-122219400	Weak transcription	HSMM	muscle
25	chr12:122211800-122219800	Weak transcription	Fetal Lung	lung
26	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
27	chr12:122212800-122217800	Genic enhancers	A549	lung
28	chr12:122212800-122219400	Weak transcription	HSMMtube	muscle
29	chr12:122213400-122221200	Genic enhancers	Fetal Thymus	thymus
30	chr12:122214000-122218400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:122214200-122219800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:122214200-122228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:122214400-122220400	Weak transcription	Right Atrium	heart
34	chr12:122214600-122218600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:122214600-122219000	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:122214600-122219400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:122214600-122219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:122214600-122219400	Strong transcription	Fetal Intestine Small	intestine
39	chr12:122214600-122219600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:122214600-122219600	Weak transcription	Left Ventricle	heart
41	chr12:122214600-122219600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:122214600-122220200	Weak transcription	Stomach Mucosa	stomach
43	chr12:122214600-122224200	Weak transcription	Pancreas	Pancrea
44	chr12:122214600-122224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:122215000-122218600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:122215200-122217600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:122215400-122217600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:122215400-122217800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr12:122215400-122218200	Strong transcription	GM12878-XiMat	blood
50	chr12:122215400-122218600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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