Variant report

Variant	rs9668964
Chromosome Location	chr12:104670449-104670450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104669706..104671743-chr12:104681393..104683576,2	K562	blood:
2	chr12:104657761..104659817-chr12:104670354..104673029,2	MCF-7	breast:
3	chr12:104668426..104670566-chr12:104680778..104683191,4	MCF-7	breast:
4	chr12:104668134..104671112-chr12:104674176..104678107,3	MCF-7	breast:
5	chr12:104668998..104671524-chr12:104672652..104674551,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EID3-2	chr12:104670383-104670464	NONHSAT030413

No data

Variant related genes	Relation type
ENSG00000257732	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000213442	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10745998	0.86[ASN][1000 genomes]
rs10778315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10778316	0.87[ASN][1000 genomes]
rs10778317	0.87[ASN][1000 genomes]
rs10778318	0.87[ASN][1000 genomes]
rs11111959	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11111960	0.90[ASN][1000 genomes]
rs28626346	0.85[ASN][1000 genomes]
rs4246267	0.87[ASN][1000 genomes]
rs4254139	0.87[ASN][1000 genomes]
rs4964735	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7136838	0.84[ASN][1000 genomes]
rs7137305	0.90[ASN][1000 genomes]
rs7295751	0.87[ASN][1000 genomes]
rs7342321	0.80[ASN][1000 genomes]
rs7342395	0.87[ASN][1000 genomes]
rs7969435	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:104658200-104672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:104664600-104673200	Weak transcription	HSMM	muscle
4	chr12:104667600-104679600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:104668600-104670600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:104669400-104670800	Flanking Active TSS	A549	lung
7	chr12:104669600-104670600	Flanking Active TSS	GM12878-XiMat	blood
8	chr12:104669600-104671800	Enhancers	NH-A	brain
9	chr12:104669800-104670600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr12:104669800-104670600	Enhancers	Fetal Heart	heart
11	chr12:104669800-104670600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:104669800-104670600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr12:104669800-104670600	Active TSS	Stomach Smooth Muscle	stomach
14	chr12:104669800-104670600	Flanking Active TSS	HepG2	liver
15	chr12:104669800-104670600	Enhancers	NHDF-Ad	bronchial
16	chr12:104669800-104670600	Flanking Active TSS	NHEK	skin
17	chr12:104669800-104670800	Flanking Active TSS	Hela-S3	cervix
18	chr12:104669800-104671000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:104669800-104672800	Enhancers	HUVEC	blood vessel
20	chr12:104670000-104670600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:104670000-104670600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr12:104670000-104670600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:104670000-104670600	Enhancers	Brain Substantia Nigra	brain
24	chr12:104670000-104670600	Active TSS	Colon Smooth Muscle	Colon
25	chr12:104670000-104670600	Enhancers	K562	blood
26	chr12:104670000-104670600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:104670000-104670600	Enhancers	NHLF	lung
28	chr12:104670000-104670600	Flanking Active TSS	Osteobl	bone
29	chr12:104670000-104674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:104670200-104670600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:104670200-104670600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:104670200-104670600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:104670200-104670600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:104670200-104670600	Enhancers	Fetal Thymus	thymus
35	chr12:104670200-104671400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:104670200-104671800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:104670400-104670600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr12:104670400-104670600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:104670400-104670600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr12:104670400-104670600	Enhancers	Rectal Smooth Muscle	rectum
41	chr12:104670400-104670600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr12:104670400-104670600	Flanking Active TSS	Stomach Mucosa	stomach
43	chr12:104670400-104670600	Enhancers	HMEC	breast
44	chr12:104670400-104670600	Enhancers	HSMMtube	muscle
45	chr12:104670400-104671000	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:104670400-104671000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:104670400-104671400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:104670400-104671400	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:104670400-104671600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:104670400-104672800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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