Variant report

Variant	rs552233195
Chromosome Location	chr12:51161695-51161696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51160285..51163042-chr12:51178907..51180859,2	MCF-7	breast:
2	chr12:50897312..50899880-chr12:51160076..51161982,2	K562	blood:
3	chr12:51159221..51162164-chr12:51418632..51421026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497481	chr12:51150734-51185125	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
2	esv3497482	chr12:51151798-51185232	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
3	esv3386327	chr12:51154734-51184232	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
4	nsv899077	chr12:51160612-51188397	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51159000-51161800	Weak transcription	Gastric	stomach
2	chr12:51159000-51175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:51159000-51180200	Weak transcription	Esophagus	oesophagus
4	chr12:51159200-51166400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:51159200-51166600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:51159200-51174600	Weak transcription	Lung	lung
7	chr12:51159200-51179400	Weak transcription	Aorta	Aorta
8	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:51159400-51162000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:51159400-51162000	Enhancers	Placenta	Placenta
11	chr12:51159400-51163200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:51159400-51163400	Flanking Active TSS	Hela-S3	cervix
13	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:51159600-51163000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:51159600-51165000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:51159600-51166600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:51159600-51189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:51159800-51161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:51159800-51161800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:51159800-51162400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:51159800-51163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:51159800-51163600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:51159800-51164000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:51159800-51164400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:51159800-51165200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:51159800-51173800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:51159800-51176200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:51159800-51178200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:51159800-51178400	Weak transcription	NHDF-Ad	bronchial
30	chr12:51159800-51180600	Weak transcription	Fetal Lung	lung
31	chr12:51159800-51189600	Weak transcription	Spleen	Spleen
32	chr12:51159800-51190400	Weak transcription	Fetal Kidney	kidney
33	chr12:51159800-51191200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:51160000-51162000	Weak transcription	A549	lung
35	chr12:51160000-51162200	Weak transcription	Fetal Heart	heart
36	chr12:51160000-51163000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:51160000-51163000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:51160000-51163000	Enhancers	HepG2	liver
39	chr12:51160000-51163200	Weak transcription	Primary B cells from cord blood	blood
40	chr12:51160000-51163200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:51160000-51163400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr12:51160000-51164600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:51160000-51164600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:51160000-51165000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:51160000-51171200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:51160000-51174800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:51160000-51174800	Weak transcription	Osteobl	bone
48	chr12:51160000-51175000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:51160000-51179200	Weak transcription	HSMMtube	muscle
50	chr12:51160000-51179800	Weak transcription	Small Intestine	intestine

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