Variant report

Variant	rs4767420
Chromosome Location	chr12:116968238-116968239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:116965552..116969590-chr12:116969611..116972937,5	MCF-7	breast:
2	chr12:116931517..116933283-chr12:116967828..116970603,2	K562	blood:
3	chr12:116967310..116968928-chr12:116982410..116984737,2	MCF-7	breast:
4	chr12:116968033..116969633-chr12:116969817..116971449,2	K562	blood:
5	chr12:116827390..116828908-chr12:116966931..116968696,2	MCF-7	breast:
6	chr12:116965507..116967746-chr12:116967975..116970470,2	K562	blood:

Variant related genes	Relation type
ENSG00000196668	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1241216	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116946600-116970400	Weak transcription	Esophagus	oesophagus
2	chr12:116954400-116968400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:116960800-116970600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:116962800-116970800	Weak transcription	Aorta	Aorta
5	chr12:116963800-116968400	Enhancers	NHDF-Ad	bronchial
6	chr12:116963800-116970400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:116963800-116970400	Weak transcription	Brain Germinal Matrix	brain
8	chr12:116963800-116970400	Weak transcription	Right Atrium	heart
9	chr12:116963800-116970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:116963800-116970800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:116963800-116970800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:116964000-116970200	Weak transcription	Fetal Brain Female	brain
13	chr12:116964000-116971000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:116964200-116970800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:116964600-116970400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:116966200-116968400	Enhancers	Pancreas	Pancrea
17	chr12:116966200-116970400	Weak transcription	Fetal Thymus	thymus
18	chr12:116966400-116970600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:116966400-116970600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:116966600-116968400	Enhancers	Fetal Stomach	stomach
21	chr12:116966800-116968400	Enhancers	Hela-S3	cervix
22	chr12:116966800-116970400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:116966800-116970400	Weak transcription	Ovary	ovary
24	chr12:116966800-116970600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:116966800-116970600	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:116966800-116970600	Weak transcription	Small Intestine	intestine
27	chr12:116966800-116970800	Weak transcription	HUVEC	blood vessel
28	chr12:116967000-116968400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:116967000-116968400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:116967000-116970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:116967000-116970400	Weak transcription	Psoas Muscle	Psoas
32	chr12:116967000-116970400	Weak transcription	HMEC	breast
33	chr12:116967000-116970800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:116967200-116970000	Weak transcription	K562	blood
35	chr12:116967200-116970400	Weak transcription	Fetal Brain Male	brain
36	chr12:116967200-116970400	Weak transcription	Fetal Intestine Small	intestine
37	chr12:116967200-116970400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:116967200-116970600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:116967200-116970600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:116967200-116970600	Weak transcription	Liver	Liver
41	chr12:116967200-116970600	Weak transcription	Fetal Kidney	kidney
42	chr12:116967200-116970600	Weak transcription	NHLF	lung
43	chr12:116967200-116970600	Weak transcription	Osteobl	bone
44	chr12:116967200-116970800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:116967200-116970800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:116967200-116970800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:116967200-116970800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:116967200-116970800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:116967200-116970800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:116967200-116970800	Weak transcription	NH-A	brain

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