Variant report

Variant	rs558899970
Chromosome Location	chr12:42630903-42630904
allele	C/G
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	TCF7L2	chr12:42630852-42631482	HEK293	kidney:	n/a	n/a
2	CTCF	chr12:42630783-42632076	A549	lung:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
3	EP300	chr12:42630881-42631539	K562	blood:	n/a	n/a
4	MXI1	chr12:42630820-42633569	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr12:42630545-42632688	IMR90	lung:	n/a	n/a
6	HCFC1	chr12:42630358-42633508	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr12:42630781-42631638	IMR90	lung:	n/a	n/a
8	MAZ	chr12:42630799-42632782	IMR90	lung:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
9	CHD1	chr12:42630487-42632928	IMR90	lung:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
10	RUNX3	chr12:42630882-42631636	GM12878	blood:	n/a	chr12:42631221-42631236

No.	Distal block	Cell Line	Cell type
1	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
2	chr12:42629596..42634057-chr12:42635851..42641617,6	MCF-7	breast:
3	chr12:42629382..42633215-chr12:42724719..42729481,4	MCF-7	breast:
4	chr12:42630581..42632543-chr12:42717454..42720310,3	MCF-7	breast:
5	chr12:42602650..42606559-chr12:42628357..42633249,5	MCF-7	breast:
6	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
7	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
8	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
9	chr12:42630585..42631302-chr8:144126589..144127131,2	MCF-7	breast:
10	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
11	chr12:42604514..42606736-chr12:42630600..42632682,2	MCF-7	breast:
12	chr12:42552974..42555837-chr12:42630405..42632767,3	MCF-7	breast:

Variant related genes	Relation type
PPHLN1	TF binding region
ENSG00000015153	Chromatin interaction
ENSG00000241710	Chromatin interaction
ENSG00000139168	Chromatin interaction
ENSG00000151233	Chromatin interaction
ENSG00000134283	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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3324521	chr12:42630510-42633558	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 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	chr12:42569800-42631000	Weak transcription	Gastric	stomach
2	chr12:42609800-42631000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:42613600-42631000	Weak transcription	Ovary	ovary
4	chr12:42620400-42631000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:42628000-42631000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:42628200-42631000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:42628600-42631000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:42628600-42631000	Weak transcription	Esophagus	oesophagus
9	chr12:42628600-42631200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:42628800-42631000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:42629000-42631000	Enhancers	Colon Smooth Muscle	Colon
12	chr12:42629000-42631000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:42629200-42631000	Weak transcription	Stomach Mucosa	stomach
14	chr12:42629200-42633000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:42629400-42631000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:42629400-42631000	Enhancers	Fetal Lung	lung
17	chr12:42629600-42631000	Weak transcription	Placenta	Placenta
18	chr12:42629600-42631400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:42629600-42632600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:42629800-42631000	Weak transcription	Left Ventricle	heart
21	chr12:42629800-42631000	Weak transcription	Lung	lung
22	chr12:42629800-42631000	Weak transcription	Pancreas	Pancrea
23	chr12:42629800-42631000	Weak transcription	Psoas Muscle	Psoas
24	chr12:42629800-42631000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:42629800-42631000	Weak transcription	Right Ventricle	heart
26	chr12:42629800-42631000	Weak transcription	Thymus	Thymus
27	chr12:42629800-42631000	Weak transcription	Spleen	Spleen
28	chr12:42629800-42632400	Active TSS	NHLF	lung
29	chr12:42629800-42632800	Active TSS	Right Atrium	heart
30	chr12:42629800-42632800	Active TSS	GM12878-XiMat	blood
31	chr12:42630000-42631200	Weak transcription	Small Intestine	intestine
32	chr12:42630000-42632600	Active TSS	Brain Angular Gyrus	brain
33	chr12:42630200-42631000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:42630200-42631000	Weak transcription	Fetal Brain Male	brain
35	chr12:42630200-42631200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:42630200-42632400	Active TSS	HMEC	breast
37	chr12:42630200-42632600	Active TSS	HSMMtube	muscle
38	chr12:42630200-42632800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:42630400-42631000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr12:42630400-42631000	Enhancers	Primary B cells from peripheral blood	blood
41	chr12:42630400-42631200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr12:42630400-42631200	Flanking Active TSS	HUVEC	blood vessel
43	chr12:42630400-42632600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr12:42630400-42632600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:42630400-42632600	Active TSS	A549	lung
46	chr12:42630400-42632800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:42630600-42631000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr12:42630600-42631000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:42630600-42631000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:42630600-42631000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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