Variant report

Variant	rs373452637
Chromosome Location	chr12:104370879-104370880
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	chr12:104370657-104372861	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104348589..104351037-chr12:104369776..104372245,2	MCF-7	breast:
2	chr12:104370024..104373447-chr12:104374664..104377599,4	K562	blood:
3	chr12:104369091..104370992-chr12:104385433..104387266,2	K562	blood:
4	chr12:104362237..104366185-chr12:104369419..104371303,3	MCF-7	breast:

Variant related genes	Relation type
TDG	TF binding region
ENSG00000204954	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3336985	chr12:104370741-104373782	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360800-104371200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:104360800-104371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:104360800-104371200	Weak transcription	Colonic Mucosa	Colon
4	chr12:104360800-104371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:104361000-104371000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:104361000-104371000	Weak transcription	Fetal Kidney	kidney
9	chr12:104361000-104372000	Weak transcription	Stomach Mucosa	stomach
10	chr12:104361200-104371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:104361200-104371000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:104361800-104371200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:104362000-104373800	Weak transcription	Psoas Muscle	Psoas
16	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
17	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
19	chr12:104362200-104371200	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:104362400-104371000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:104362400-104371000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:104362400-104371200	Weak transcription	Brain Germinal Matrix	brain
24	chr12:104362400-104371400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:104362400-104378000	Weak transcription	Small Intestine	intestine
26	chr12:104362600-104371000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:104362600-104371000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:104363200-104371000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:104363400-104371200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:104363400-104371200	Weak transcription	Fetal Brain Female	brain
31	chr12:104363400-104371400	Weak transcription	Spleen	Spleen
32	chr12:104363600-104371000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:104363600-104371000	Weak transcription	Brain Anterior Caudate	brain
34	chr12:104363600-104371000	Weak transcription	Gastric	stomach
35	chr12:104363600-104371000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:104363600-104371000	Weak transcription	Thymus	Thymus
37	chr12:104363600-104371200	Weak transcription	Aorta	Aorta
38	chr12:104363600-104371200	Weak transcription	Brain Angular Gyrus	brain
39	chr12:104363800-104371000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:104363800-104371000	Weak transcription	A549	lung
41	chr12:104363800-104371000	Weak transcription	NHDF-Ad	bronchial
42	chr12:104363800-104371400	Weak transcription	HMEC	breast
43	chr12:104363800-104382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:104364000-104371200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:104364000-104372800	Strong transcription	Fetal Intestine Small	intestine
46	chr12:104364000-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:104364200-104371000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:104364600-104383800	Strong transcription	Dnd41	blood
49	chr12:104365000-104371000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:104365800-104371000	Weak transcription	Right Ventricle	heart

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