Variant report

Variant	rs17099949
Chromosome Location	chr12:64336805-64336806
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	chr12:64335711..64337439-chr12:64340636..64343314,2	MCF-7	breast:
2	chr12:64319485..64321030-chr12:64334401..64337010,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11175219	1.00[ASW][hapmap]
rs17711166	1.00[ASW][hapmap]
rs699629	1.00[ASW][hapmap]
rs789738	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv559201	chr12:64333212-64366408	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64316600-64338400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:64328000-64339800	Enhancers	Fetal Brain Male	brain
4	chr12:64328400-64339600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:64329000-64342200	Weak transcription	Hela-S3	cervix
7	chr12:64329400-64339400	Weak transcription	HMEC	breast
8	chr12:64329800-64343800	Weak transcription	Osteobl	bone
9	chr12:64330000-64342000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:64330000-64343800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:64330200-64338400	Weak transcription	Fetal Stomach	stomach
12	chr12:64330400-64346800	Weak transcription	Gastric	stomach
13	chr12:64332000-64339200	Weak transcription	NHLF	lung
14	chr12:64332200-64337200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:64332200-64343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:64332400-64338600	Weak transcription	Right Ventricle	heart
17	chr12:64333000-64337400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:64333000-64339000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:64333000-64349200	Weak transcription	HSMM	muscle
20	chr12:64334200-64338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:64334600-64337400	Weak transcription	HepG2	liver
22	chr12:64334600-64337800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:64334600-64338000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:64334600-64338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:64334600-64343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:64334800-64337000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:64334800-64337000	Enhancers	Brain Substantia Nigra	brain
28	chr12:64334800-64337000	Enhancers	Fetal Brain Female	brain
29	chr12:64334800-64337400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:64334800-64337400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:64334800-64337800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:64334800-64337800	Weak transcription	Placenta	Placenta
33	chr12:64334800-64337800	Weak transcription	Pancreas	Pancrea
34	chr12:64334800-64338000	Weak transcription	Adipose Nuclei	Adipose
35	chr12:64334800-64338000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:64334800-64338200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:64334800-64338200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:64334800-64338200	Weak transcription	Brain Germinal Matrix	brain
39	chr12:64334800-64338200	Weak transcription	Fetal Intestine Large	intestine
40	chr12:64334800-64338200	Weak transcription	Fetal Intestine Small	intestine
41	chr12:64334800-64338200	Weak transcription	Lung	lung
42	chr12:64334800-64338200	Weak transcription	HUVEC	blood vessel
43	chr12:64334800-64338400	Enhancers	Brain Hippocampus Middle	brain
44	chr12:64334800-64338400	Weak transcription	Left Ventricle	heart
45	chr12:64334800-64338400	Weak transcription	Psoas Muscle	Psoas
46	chr12:64334800-64338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:64334800-64339400	Weak transcription	Ovary	ovary
48	chr12:64334800-64343600	Weak transcription	Stomach Mucosa	stomach
49	chr12:64334800-64344000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:64334800-64344000	Weak transcription	Fetal Kidney	kidney

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