Variant report

Variant	rs4964177
Chromosome Location	chr12:106905411-106905412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12814523	1.00[ASN][1000 genomes]
rs12815560	1.00[ASN][1000 genomes]
rs12827304	1.00[ASN][1000 genomes]
rs12831519	1.00[ASN][1000 genomes]
rs17217845	1.00[ASN][1000 genomes]
rs34826388	1.00[ASN][1000 genomes]
rs34855793	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34956441	1.00[ASN][1000 genomes]
rs34998821	1.00[ASN][1000 genomes]
rs36010188	1.00[ASN][1000 genomes]
rs4964463	1.00[ASN][1000 genomes]
rs61941947	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941956	1.00[ASN][1000 genomes]
rs71452919	1.00[ASN][1000 genomes]
rs71452921	1.00[ASN][1000 genomes]
rs7316434	1.00[ASN][1000 genomes]

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	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:106886200-106916400	Weak transcription	A549	lung
3	chr12:106887600-106907800	Weak transcription	Small Intestine	intestine
4	chr12:106888200-106906800	Weak transcription	Brain Substantia Nigra	brain
5	chr12:106892000-106906400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:106892000-106907800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:106892800-106905600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:106894400-106916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:106894600-106913200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:106896400-106906600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:106896400-106906800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:106896400-106907200	Weak transcription	Esophagus	oesophagus
13	chr12:106896400-106908400	Weak transcription	NHLF	lung
14	chr12:106896400-106916800	Weak transcription	Fetal Intestine Small	intestine
15	chr12:106896600-106906400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:106897400-106905600	Strong transcription	Placenta	Placenta
17	chr12:106898200-106907600	Weak transcription	K562	blood
18	chr12:106898600-106906600	Weak transcription	Fetal Brain Female	brain
19	chr12:106898600-106906800	Weak transcription	Osteobl	bone
20	chr12:106898600-106916000	Weak transcription	HepG2	liver
21	chr12:106898800-106905600	Weak transcription	Fetal Intestine Large	intestine
22	chr12:106898800-106905600	Weak transcription	HSMMtube	muscle
23	chr12:106898800-106913200	Weak transcription	Fetal Lung	lung
24	chr12:106899000-106906000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:106899000-106907000	Weak transcription	Gastric	stomach
26	chr12:106899200-106907000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:106899600-106905600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:106899600-106906400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:106899600-106911000	Weak transcription	Brain Germinal Matrix	brain
30	chr12:106900800-106905600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:106900800-106907000	Weak transcription	Lung	lung
32	chr12:106900800-106908000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:106900800-106908600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:106900800-106908800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:106901000-106905600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:106901000-106906800	Weak transcription	Brain Anterior Caudate	brain
37	chr12:106901000-106913200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:106901600-106906600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:106901600-106908000	Weak transcription	Hela-S3	cervix
40	chr12:106901600-106909200	Weak transcription	Fetal Kidney	kidney
41	chr12:106901800-106906000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:106903200-106905600	Strong transcription	Fetal Muscle Leg	muscle
43	chr12:106903200-106905800	Strong transcription	Fetal Stomach	stomach
44	chr12:106903600-106905800	Weak transcription	HMEC	breast
45	chr12:106903600-106906800	Weak transcription	Dnd41	blood
46	chr12:106903800-106906000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:106903800-106906200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:106903800-106906600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:106903800-106907000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:106903800-106907800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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