Variant report

Variant	rs7138136
Chromosome Location	chr12:30884648-30884649
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	MAFK	chr12:30884313-30884702	HepG2	liver:	n/a	chr12:30884668-30884677

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30883768..30885514-chr12:30887352..30889771,2	K562	blood:

Variant related genes	Relation type
CAPRIN2	TF binding region
ENSG00000110888	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16906727	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57283759	1.00[EUR][1000 genomes]
rs7308899	1.00[EUR][1000 genomes]
rs7952888	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
2	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:30861400-30885000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
6	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:30863400-30885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:30863400-30891000	Weak transcription	GM12878-XiMat	blood
12	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
13	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:30869600-30886000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:30869800-30889000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:30871400-30900800	Weak transcription	K562	blood
18	chr12:30872200-30886000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:30872200-30903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:30872400-30903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:30874600-30899000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:30876000-30906600	Weak transcription	Fetal Intestine Small	intestine
23	chr12:30876200-30894800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:30878000-30899200	Weak transcription	Fetal Brain Male	brain
25	chr12:30878000-30904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:30878000-30904400	Weak transcription	Pancreas	Pancrea
27	chr12:30878200-30906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:30878800-30906600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:30879000-30884800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:30879600-30899400	Weak transcription	NHDF-Ad	bronchial
31	chr12:30879800-30895000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:30879800-30905800	Weak transcription	NHLF	lung
33	chr12:30880000-30893800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:30880400-30884800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:30880400-30888400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:30881400-30884800	Strong transcription	NHEK	skin
37	chr12:30881400-30887800	Weak transcription	Primary B cells from cord blood	blood
38	chr12:30882000-30899200	Weak transcription	Brain Germinal Matrix	brain
39	chr12:30882000-30899200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:30882000-30906800	Weak transcription	Psoas Muscle	Psoas
41	chr12:30882200-30886200	Weak transcription	Liver	Liver
42	chr12:30882200-30886200	Weak transcription	Ovary	ovary
43	chr12:30882200-30886400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:30882200-30886400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:30882200-30887000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:30882200-30887000	Weak transcription	Thymus	Thymus
47	chr12:30882200-30887200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:30882200-30889400	Weak transcription	Fetal Thymus	thymus
49	chr12:30882200-30891200	Weak transcription	Adipose Nuclei	Adipose
50	chr12:30882200-30892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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