Variant report

Variant	rs12311698
Chromosome Location	chr12:63160175-63160176
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63154137..63156513-chr12:63157546..63160196,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11174637	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11174638	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11174639	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12303297	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12303313	0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12310630	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17098337	1.00[EUR][1000 genomes]
rs56267727	1.00[EUR][1000 genomes]
rs58310965	1.00[EUR][1000 genomes]
rs58490000	1.00[EUR][1000 genomes]
rs7311838	1.00[EUR][1000 genomes]
rs74096889	1.00[EUR][1000 genomes]
rs74098826	1.00[EUR][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	nsv559157	chr12:63142592-63163019	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:63145400-63160600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:63145800-63160600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:63145800-63160800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:63145800-63163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:63151000-63160600	Weak transcription	Brain Angular Gyrus	brain
10	chr12:63152200-63160600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:63152400-63161200	Weak transcription	HUVEC	blood vessel
12	chr12:63153600-63163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:63153600-63164000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:63153600-63171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:63153800-63163200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:63154000-63163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:63154800-63160600	Weak transcription	HSMMtube	muscle
18	chr12:63155400-63161200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:63156000-63160800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:63156000-63161000	Weak transcription	Gastric	stomach
21	chr12:63156000-63168000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:63156200-63161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:63156400-63160400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:63156400-63163200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:63157200-63160800	Weak transcription	Aorta	Aorta
26	chr12:63157400-63160600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:63157400-63165400	Weak transcription	Pancreas	Pancrea
28	chr12:63157600-63160200	Weak transcription	A549	lung
29	chr12:63157600-63160800	Weak transcription	Adipose Nuclei	Adipose
30	chr12:63157600-63163200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:63157800-63163200	Strong transcription	HepG2	liver
32	chr12:63157800-63163600	Weak transcription	Right Atrium	heart
33	chr12:63158000-63163600	Weak transcription	Ovary	ovary
34	chr12:63158000-63166000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:63158200-63163600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:63158200-63164000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:63158200-63167600	Weak transcription	Fetal Intestine Large	intestine
38	chr12:63158400-63160800	Weak transcription	Osteobl	bone
39	chr12:63158400-63162200	Strong transcription	Fetal Intestine Small	intestine
40	chr12:63158600-63160400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:63158600-63160600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:63158600-63166800	Weak transcription	Left Ventricle	heart
43	chr12:63158800-63160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:63158800-63160400	Weak transcription	NHDF-Ad	bronchial
45	chr12:63158800-63161000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:63158800-63161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:63159000-63164400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:63159200-63160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:63159600-63160800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:63159800-63160200	Weak transcription	Fetal Muscle Leg	muscle

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