Variant report

Variant	rs4768919
Chromosome Location	chr12:51166174-51166175
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	chr12:51156235..51160771-chr12:51163731..51171865,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10431532	1.00[EUR][1000 genomes]
rs10431533	1.00[EUR][1000 genomes]
rs10732734	1.00[EUR][1000 genomes]
rs10876079	1.00[EUR][1000 genomes]
rs1096028	1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11833478	1.00[EUR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1595597	1.00[EUR][1000 genomes]
rs1642998	1.00[EUR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	1.00[EUR][1000 genomes]
rs2037453	1.00[EUR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2359188	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2464125	1.00[EUR][1000 genomes]
rs2468378	1.00[EUR][1000 genomes]
rs2554869	1.00[EUR][1000 genomes]
rs2684895	1.00[EUR][1000 genomes]
rs2684896	1.00[EUR][1000 genomes]
rs2684897	1.00[EUR][1000 genomes]
rs2684904	1.00[EUR][1000 genomes]
rs2684905	1.00[EUR][1000 genomes]
rs2684907	1.00[EUR][1000 genomes]
rs2684909	1.00[EUR][1000 genomes]
rs2700476	1.00[EUR][1000 genomes]
rs2700477	1.00[EUR][1000 genomes]
rs2700481	1.00[EUR][1000 genomes]
rs2700483	1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731441	1.00[EUR][1000 genomes]
rs2731444	1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731446	1.00[EUR][1000 genomes]
rs2731447	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4768896	1.00[EUR][1000 genomes]
rs4768897	1.00[EUR][1000 genomes]
rs4768898	1.00[EUR][1000 genomes]
rs4768908	1.00[EUR][1000 genomes]
rs4768910	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs6580762	1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs829116	1.00[EUR][1000 genomes]
rs829117	1.00[EUR][1000 genomes]
rs829118	1.00[EUR][1000 genomes]
rs829119	1.00[EUR][1000 genomes]
rs829121	1.00[EUR][1000 genomes]
rs829136	1.00[EUR][1000 genomes]
rs829137	1.00[EUR][1000 genomes]
rs829138	1.00[EUR][1000 genomes]
rs939632	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	1.00[EUR][1000 genomes]
rs9943796	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497481	chr12:51150734-51185125	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
2	esv3497482	chr12:51151798-51185232	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
3	esv3386327	chr12:51154734-51184232	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
4	nsv899077	chr12:51160612-51188397	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51159000-51175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51159000-51180200	Weak transcription	Esophagus	oesophagus
3	chr12:51159200-51166400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:51159200-51166600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:51159200-51174600	Weak transcription	Lung	lung
6	chr12:51159200-51179400	Weak transcription	Aorta	Aorta
7	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:51159600-51166600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:51159600-51189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:51159800-51173800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:51159800-51176200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:51159800-51178200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:51159800-51178400	Weak transcription	NHDF-Ad	bronchial
15	chr12:51159800-51180600	Weak transcription	Fetal Lung	lung
16	chr12:51159800-51189600	Weak transcription	Spleen	Spleen
17	chr12:51159800-51190400	Weak transcription	Fetal Kidney	kidney
18	chr12:51159800-51191200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:51160000-51171200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:51160000-51174800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:51160000-51174800	Weak transcription	Osteobl	bone
22	chr12:51160000-51175000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:51160000-51179200	Weak transcription	HSMMtube	muscle
24	chr12:51160000-51179800	Weak transcription	Small Intestine	intestine
25	chr12:51160000-51189800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:51160000-51190800	Weak transcription	Right Ventricle	heart
27	chr12:51160200-51171000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:51160200-51171200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:51160200-51172600	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:51160200-51172800	Weak transcription	HSMM	muscle
31	chr12:51160200-51174200	Weak transcription	Left Ventricle	heart
32	chr12:51160200-51175000	Weak transcription	Brain Anterior Caudate	brain
33	chr12:51160200-51178200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:51160200-51178400	Weak transcription	HMEC	breast
35	chr12:51160200-51179400	Weak transcription	Right Atrium	heart
36	chr12:51160200-51180200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:51160200-51189600	Weak transcription	Pancreas	Pancrea
38	chr12:51160200-51189800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:51160400-51166600	Weak transcription	Fetal Brain Female	brain
40	chr12:51160600-51178200	Weak transcription	Psoas Muscle	Psoas
41	chr12:51160800-51174800	Weak transcription	Liver	Liver
42	chr12:51160800-51189600	Weak transcription	Brain Angular Gyrus	brain
43	chr12:51160800-51190600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:51161000-51175200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:51161000-51178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:51161000-51189800	Weak transcription	Ovary	ovary
47	chr12:51161600-51175200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:51161800-51180400	Weak transcription	Colonic Mucosa	Colon
49	chr12:51162400-51179200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:51162600-51175200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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