Variant report

Variant	rs34081199
Chromosome Location	chr12:49217097-49217098
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49213747..49217997-chr12:49244325..49246364,4	MCF-7	breast:
2	chr12:49216573..49218418-chr12:49258019..49261488,3	MCF-7	breast:
3	chr12:49211648..49214414-chr12:49216563..49220166,3	K562	blood:
4	chr12:49216477..49218996-chr12:49657402..49659438,2	K562	blood:
5	chr12:49211388..49215233-chr12:49215394..49218773,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167535	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000167553	Chromatin interaction

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

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

rs_ID	r²[population]
rs12307769	1.00[MEX][hapmap]
rs3803024	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49212600-49223400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:49212800-49224000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:49213000-49217200	Weak transcription	Aorta	Aorta
4	chr12:49213000-49217200	Weak transcription	Esophagus	oesophagus
5	chr12:49213000-49219000	Weak transcription	Primary T cells from cord blood	blood
6	chr12:49213000-49220000	Weak transcription	NHEK	skin
7	chr12:49213000-49220200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:49213000-49221200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:49213000-49221600	Weak transcription	Left Ventricle	heart
10	chr12:49213000-49222400	Weak transcription	Primary B cells from cord blood	blood
11	chr12:49213000-49222800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:49213000-49223400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:49213000-49226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:49213000-49231200	Weak transcription	Right Atrium	heart
15	chr12:49213200-49217200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:49213200-49217200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:49213200-49217200	Weak transcription	Colonic Mucosa	Colon
18	chr12:49213200-49217200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:49213200-49217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:49213200-49217600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:49213200-49218200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:49213200-49218400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:49213200-49218800	Weak transcription	NHDF-Ad	bronchial
24	chr12:49213200-49220000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:49213200-49220000	Weak transcription	Lung	lung
26	chr12:49213200-49220000	Weak transcription	NH-A	brain
27	chr12:49213200-49220000	Weak transcription	Osteobl	bone
28	chr12:49213200-49220600	Weak transcription	A549	lung
29	chr12:49213200-49220800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:49213200-49221000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:49213200-49221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:49213200-49222400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:49213200-49222800	Weak transcription	Hela-S3	cervix
34	chr12:49213200-49223200	Weak transcription	HSMMtube	muscle
35	chr12:49213200-49223800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:49213200-49223800	Weak transcription	HSMM	muscle
37	chr12:49213400-49217200	Weak transcription	Adipose Nuclei	Adipose
38	chr12:49213400-49217400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:49213400-49217400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:49213400-49217600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:49213400-49217600	Weak transcription	Stomach Mucosa	stomach
42	chr12:49213400-49217800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:49213400-49218000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:49213400-49218200	Weak transcription	Gastric	stomach
45	chr12:49213400-49218200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:49213400-49220000	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:49213400-49220000	Weak transcription	Spleen	Spleen
48	chr12:49213400-49220000	Weak transcription	HUVEC	blood vessel
49	chr12:49213400-49220200	Weak transcription	Right Ventricle	heart
50	chr12:49213400-49220400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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