Variant report

Variant	rs575484393
Chromosome Location	chr12:51152514-51152515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51152414-51152667	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50884317..50886890-chr12:51151312..51154186,3	MCF-7	breast:
2	chr12:51150985..51152690-chr12:51154606..51156360,3	K562	blood:
3	chr12:51152469..51154086-chr12:51156106..51158025,3	MCF-7	breast:
4	chr12:51147055..51148695-chr12:51151932..51154875,2	K562	blood:

Variant related genes	Relation type
ATF1	TF binding region
ENSG00000123268	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	esv3496653	chr12:51152014-51153470	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3496664	chr12:51152014-51153470	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
2	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:51139600-51156000	Weak transcription	A549	lung
4	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:51141800-51154400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
7	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:51142000-51156200	Weak transcription	HMEC	breast
9	chr12:51142000-51156200	Weak transcription	Osteobl	bone
10	chr12:51142000-51156800	Weak transcription	Pancreas	Pancrea
11	chr12:51142200-51156000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:51142200-51156200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:51142200-51156200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:51142200-51156400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:51142200-51156400	Weak transcription	NH-A	brain
16	chr12:51142200-51156800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:51142200-51156800	Weak transcription	Spleen	Spleen
18	chr12:51142400-51155600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:51142800-51156200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:51142800-51156200	Weak transcription	Brain Germinal Matrix	brain
21	chr12:51143600-51155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:51143600-51156200	Weak transcription	Adipose Nuclei	Adipose
23	chr12:51143800-51156000	Weak transcription	Thymus	Thymus
24	chr12:51143800-51156200	Weak transcription	Fetal Lung	lung
25	chr12:51144000-51154200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:51144000-51154400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:51144000-51156200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:51144400-51156200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:51144600-51155800	Weak transcription	Liver	Liver
30	chr12:51144600-51156200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:51144600-51156200	Weak transcription	Brain Anterior Caudate	brain
32	chr12:51144600-51156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:51144600-51156800	Weak transcription	Lung	lung
34	chr12:51144800-51154400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:51144800-51154400	Weak transcription	Primary B cells from cord blood	blood
36	chr12:51144800-51156000	Weak transcription	Fetal Intestine Small	intestine
37	chr12:51144800-51156200	Weak transcription	Primary T cells from cord blood	blood
38	chr12:51144800-51156200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:51145000-51154200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:51145000-51156800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:51145400-51154000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:51145400-51154200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:51145400-51154200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:51145400-51154400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:51145400-51156200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:51145400-51156200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:51145400-51156200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:51145800-51155800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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