Variant report

Variant	rs376750237
Chromosome Location	chr12:121964814-121964815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121963430..121965799-chr12:121969024..121970843,2	K562	blood:
2	chr12:121962667..121965856-chr12:121973403..121978252,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089094	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	nsv560457	chr12:121956483-121976176	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3386924	chr12:121964019-121966317	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121928600-121965800	Weak transcription	Hela-S3	cervix
2	chr12:121932000-121974400	Weak transcription	NHEK	skin
3	chr12:121934800-121968200	Weak transcription	Small Intestine	intestine
4	chr12:121938200-121968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:121938200-121971000	Weak transcription	Stomach Mucosa	stomach
6	chr12:121938200-121973800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:121938400-121968600	Weak transcription	Fetal Kidney	kidney
8	chr12:121938400-121973600	Weak transcription	Psoas Muscle	Psoas
9	chr12:121938800-121968600	Weak transcription	Right Atrium	heart
10	chr12:121938800-121970600	Weak transcription	Fetal Brain Male	brain
11	chr12:121943800-121968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:121944000-121968400	Weak transcription	Osteobl	bone
13	chr12:121947600-121968200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:121947800-121968800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:121947800-121969400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:121947800-121973400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:121948000-121968400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:121948200-121973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:121950200-121973800	Weak transcription	HSMMtube	muscle
20	chr12:121952400-121968400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:121952600-121968200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:121952600-121968600	Weak transcription	A549	lung
23	chr12:121953400-121970600	Strong transcription	Fetal Intestine Small	intestine
24	chr12:121954000-121967800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:121957400-121968600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:121957400-121973200	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:121957600-121969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:121957800-121965800	Weak transcription	Fetal Lung	lung
29	chr12:121957800-121968200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:121958600-121968400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:121958800-121968600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:121959000-121968400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:121959200-121974000	Weak transcription	Aorta	Aorta
34	chr12:121959400-121965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:121959400-121968600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:121959400-121968600	Weak transcription	Left Ventricle	heart
37	chr12:121959400-121972800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:121959600-121965800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:121959600-121965800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:121959600-121968600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:121959600-121968600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:121959600-121968600	Weak transcription	Ovary	ovary
43	chr12:121959600-121968600	Weak transcription	Pancreas	Pancrea
44	chr12:121960000-121965800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:121961200-121968600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:121961400-121966000	Weak transcription	Esophagus	oesophagus
47	chr12:121961400-121970600	Weak transcription	Colonic Mucosa	Colon
48	chr12:121961600-121968600	Weak transcription	Adipose Nuclei	Adipose
49	chr12:121961800-121968200	Weak transcription	NHLF	lung
50	chr12:121962000-121968600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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