Variant report

Variant	rs708216
Chromosome Location	chr12:31546691-31546692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31542968..31546848-chr12:31547765..31551157,4	MCF-7	breast:
2	chr12:31546370..31548600-chr12:31552632..31554461,2	K562	blood:

Variant related genes	Relation type
ENSG00000200388	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1654008	0.81[AFR][1000 genomes]
rs1798769	0.90[AFR][1000 genomes]
rs1798781	0.86[AFR][1000 genomes]
rs1798782	0.87[AFR][1000 genomes]
rs2568896	0.87[AFR][1000 genomes]
rs2682675	0.84[AFR][1000 genomes]
rs2682702	0.90[AFR][1000 genomes]
rs708196	0.81[AFR][1000 genomes]
rs708198	0.87[AFR][1000 genomes]
rs708199	0.87[AFR][1000 genomes]
rs708201	0.90[AFR][1000 genomes]
rs708202	0.82[AFR][1000 genomes]
rs708210	0.83[AFR][1000 genomes]
rs708211	0.87[AFR][1000 genomes]
rs708218	0.90[AFR][1000 genomes]
rs708220	0.88[AFR][1000 genomes]
rs792874	0.90[AFR][1000 genomes]
rs793152	0.87[AFR][1000 genomes]
rs793164	0.90[AFR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31535600-31560600	Weak transcription	Osteobl	bone
2	chr12:31536000-31550600	Weak transcription	Right Ventricle	heart
3	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:31536600-31547000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine
6	chr12:31537200-31555600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
8	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:31537800-31572400	Weak transcription	Stomach Mucosa	stomach
10	chr12:31538000-31549800	Strong transcription	A549	lung
11	chr12:31538000-31555600	Strong transcription	Liver	Liver
12	chr12:31538200-31548600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:31538400-31555000	Weak transcription	Brain Substantia Nigra	brain
14	chr12:31538600-31551600	Strong transcription	Fetal Intestine Small	intestine
15	chr12:31538600-31563400	Weak transcription	Colonic Mucosa	Colon
16	chr12:31539000-31552600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:31539600-31555800	Weak transcription	NH-A	brain
18	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
19	chr12:31540000-31549400	Weak transcription	Brain Angular Gyrus	brain
20	chr12:31540400-31565200	Weak transcription	HUVEC	blood vessel
21	chr12:31540600-31549400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:31540800-31548600	Weak transcription	Gastric	stomach
23	chr12:31540800-31555800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:31540800-31563400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:31540800-31565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:31540800-31572200	Weak transcription	Lung	lung
27	chr12:31540800-31573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:31540800-31576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:31541000-31555800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:31542000-31578400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:31542200-31554000	Weak transcription	Aorta	Aorta
32	chr12:31542200-31566000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
34	chr12:31542400-31550600	Weak transcription	HSMMtube	muscle
35	chr12:31542400-31551200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:31542400-31564600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:31542400-31565400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:31542400-31571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:31542600-31548000	Weak transcription	Fetal Kidney	kidney
41	chr12:31542600-31553200	Weak transcription	HepG2	liver
42	chr12:31542600-31555800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:31542800-31575400	Weak transcription	Fetal Brain Male	brain
45	chr12:31542800-31578800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:31543000-31551200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:31544200-31548400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:31544200-31555800	Weak transcription	HSMM	muscle
49	chr12:31544200-31579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:31544400-31547800	Weak transcription	Duodenum Mucosa	Duodenum

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