Variant report

Variant	rs190739985
Chromosome Location	chr12:123741888-123741889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123741683-123743944	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123716155..123719079-chr12:123740733..123744668,4	K562	blood:
2	chr12:123737581..123740036-chr12:123741564..123743810,2	MCF-7	breast:
3	chr12:123738852..123742382-chr12:123742428..123743998,3	MCF-7	breast:
4	chr12:123733760..123735468-chr12:123740461..123742402,2	K562	blood:
5	chr12:123740880..123744807-chr12:123747455..123750621,4	MCF-7	breast:
6	chr12:123716188..123719079-chr12:123740733..123744668,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269980	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv996114	chr12:123741593-123742443	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123725800-123746400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123733400-123745000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123734600-123753200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:123735200-123751800	Strong transcription	Fetal Stomach	stomach
5	chr12:123735400-123745400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:123735600-123743400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:123735600-123752400	Strong transcription	Thymus	Thymus
8	chr12:123736000-123745400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:123736000-123747800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:123736000-123748000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:123736000-123752200	Strong transcription	Dnd41	blood
12	chr12:123736200-123742400	Strong transcription	Fetal Thymus	thymus
13	chr12:123736200-123744200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:123736200-123751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:123736400-123750600	Strong transcription	Fetal Lung	lung
16	chr12:123736400-123752200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:123736400-123752600	Strong transcription	NHLF	lung
18	chr12:123737000-123744000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:123737000-123753000	Strong transcription	Fetal Intestine Small	intestine
20	chr12:123737200-123752000	Strong transcription	A549	lung
21	chr12:123737400-123749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:123737800-123742000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:123737800-123743800	Strong transcription	GM12878-XiMat	blood
24	chr12:123737800-123745000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:123737800-123745600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:123737800-123746800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:123738000-123742600	Strong transcription	HepG2	liver
28	chr12:123738000-123743400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:123738000-123743400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:123738000-123743600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:123738000-123743600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:123738000-123743800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:123738000-123743800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:123738000-123744000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:123738000-123744600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:123738000-123745200	Strong transcription	Spleen	Spleen
37	chr12:123738000-123746000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:123738000-123746200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr12:123738000-123746200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:123738000-123746600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:123738000-123748200	Strong transcription	Primary T cells from cord blood	blood
42	chr12:123738000-123749200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:123738000-123749200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:123738000-123749600	Strong transcription	Fetal Muscle Leg	muscle
45	chr12:123738000-123749600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr12:123738000-123750400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:123738000-123751000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:123738000-123751200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:123738000-123751800	Strong transcription	Liver	Liver
50	chr12:123738000-123751800	Strong transcription	Fetal Intestine Large	intestine

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