Variant report

Variant	rs551945264
Chromosome Location	chr6:12340438-12340439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv528681	chr6:12340034-12362219	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12332200-12344000	Weak transcription	Aorta	Aorta
2	chr6:12335000-12342000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:12335000-12342000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:12336000-12343400	Weak transcription	Fetal Kidney	kidney
5	chr6:12336800-12341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:12336800-12341800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:12336800-12342000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:12336800-12342000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:12337000-12341400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:12337000-12341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:12337000-12341600	Weak transcription	Stomach Mucosa	stomach
12	chr6:12337000-12341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:12337200-12341400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:12337200-12342000	Weak transcription	Hela-S3	cervix
15	chr6:12337200-12348600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:12338200-12343000	Enhancers	Liver	Liver
17	chr6:12338200-12345800	Enhancers	Fetal Intestine Small	intestine
18	chr6:12338600-12342600	Enhancers	A549	lung
19	chr6:12338800-12340600	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:12338800-12345800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:12339000-12346200	Enhancers	Fetal Intestine Large	intestine
22	chr6:12339800-12340600	Enhancers	Colonic Mucosa	Colon
23	chr6:12339800-12340600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:12339800-12340800	Flanking Active TSS	HepG2	liver
25	chr6:12339800-12341000	Enhancers	Pancreas	Pancrea
26	chr6:12340200-12340600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:12340200-12340800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:12340200-12340800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:12340200-12341400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:12340200-12341600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:12340200-12342000	Weak transcription	Small Intestine	intestine
32	chr6:12340400-12340600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:12340400-12340800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:12340400-12341000	Enhancers	NHEK	skin
35	chr6:12340400-12341800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:12340400-12342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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