Variant report

Variant	rs34085220
Chromosome Location	chr12:121999897-121999898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121997898..122000701-chr12:122012949..122016939,4	MCF-7	breast:
2	chr12:121994532..121997141-chr12:121999615..122001300,2	K562	blood:
3	chr12:121994938..121997253-chr12:121998055..122000880,3	K562	blood:
4	chr12:121993997..121998294-chr12:121998925..122002554,4	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7974950	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121976400-122001200	Strong transcription	Dnd41	blood
2	chr12:121976600-122006800	Weak transcription	Fetal Lung	lung
3	chr12:121976600-122014600	Weak transcription	Colonic Mucosa	Colon
4	chr12:121977200-122015200	Weak transcription	Small Intestine	intestine
5	chr12:121979400-122006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:121981600-122000800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:121986000-122012000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:121986800-122006800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:121986800-122006800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:121986800-122011800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:121987000-122006800	Weak transcription	Right Ventricle	heart
12	chr12:121987200-122006800	Weak transcription	NHLF	lung
13	chr12:121987200-122011800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:121987400-122007000	Weak transcription	Ovary	ovary
15	chr12:121987400-122011800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:121987400-122011800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:121987600-122005200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:121987600-122006400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:121987600-122006400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:121987600-122007000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:121987600-122007800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:121987600-122008400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:121987600-122008600	Weak transcription	Brain Germinal Matrix	brain
24	chr12:121987600-122010200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:121987600-122012000	Weak transcription	Brain Substantia Nigra	brain
26	chr12:121987600-122012000	Weak transcription	NHEK	skin
27	chr12:121987600-122016800	Weak transcription	Aorta	Aorta
28	chr12:121987800-122000400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:121987800-122006800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:121987800-122007000	Weak transcription	Brain Angular Gyrus	brain
31	chr12:121987800-122007000	Weak transcription	Brain Anterior Caudate	brain
32	chr12:121987800-122008200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:121988000-122006600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:121988200-122006600	Weak transcription	HSMM	muscle
35	chr12:121990400-122008600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:121990600-122013600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:121991000-122008400	Weak transcription	Liver	Liver
38	chr12:121991200-122000400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:121991400-122012000	Weak transcription	Pancreas	Pancrea
40	chr12:121991800-122006800	Weak transcription	Right Atrium	heart
41	chr12:121992000-122008600	Weak transcription	Primary T cells from cord blood	blood
42	chr12:121992200-122000400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:121992200-122008400	Weak transcription	NH-A	brain
44	chr12:121992200-122009600	Weak transcription	Lung	lung
45	chr12:121994600-122001200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:121995400-122001000	Enhancers	Primary B cells from peripheral blood	blood
47	chr12:121995800-122012200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:121996000-122012000	Weak transcription	Gastric	stomach
49	chr12:121996200-122012000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:121996200-122015400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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