Variant report

Variant	rs7305811
Chromosome Location	chr12:49306646-49306647
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49299067..49301017-chr12:49305667..49307889,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11168810	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12122	0.86[EUR][1000 genomes]
rs12829682	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2694841	0.86[EUR][1000 genomes]
rs41291977	1.00[EUR][1000 genomes]
rs708242	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71464944	0.86[EUR][1000 genomes]
rs7967350	0.81[AFR][1000 genomes]
rs833823	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs833829	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs833834	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs833835	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs941193	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49298200-49315800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:49298200-49318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:49298400-49308000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:49298400-49310400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:49298400-49310400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:49298400-49310400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:49298400-49310600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:49298400-49310600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:49298400-49310800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:49298400-49310800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:49298400-49311400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:49298400-49313400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:49298400-49314800	Weak transcription	Lung	lung
14	chr12:49298400-49315000	Weak transcription	Osteobl	bone
15	chr12:49298400-49317800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:49298400-49318000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:49298400-49318000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:49298400-49318000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:49298400-49318200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:49298400-49318200	Weak transcription	Right Atrium	heart
21	chr12:49298400-49318400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:49298600-49310400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:49298600-49315000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:49298600-49315000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:49298600-49316000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:49298600-49318200	Weak transcription	Brain Anterior Caudate	brain
27	chr12:49298800-49307800	Weak transcription	Fetal Stomach	stomach
28	chr12:49298800-49308400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:49298800-49315400	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:49298800-49315800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:49298800-49318000	Weak transcription	Fetal Lung	lung
32	chr12:49298800-49318200	Weak transcription	Fetal Brain Male	brain
33	chr12:49299400-49315000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:49301800-49315600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:49302000-49318200	Weak transcription	Brain Germinal Matrix	brain
36	chr12:49302200-49315400	Weak transcription	Pancreas	Pancrea
37	chr12:49302800-49311400	Weak transcription	HSMMtube	muscle
38	chr12:49302800-49317800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:49304200-49314600	Weak transcription	A549	lung
40	chr12:49304200-49314800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:49304400-49308400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:49304800-49307800	Weak transcription	Fetal Intestine Small	intestine
43	chr12:49305000-49314800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:49305000-49318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:49305200-49311000	Weak transcription	Thymus	Thymus
46	chr12:49305200-49317600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:49305400-49307800	Weak transcription	HepG2	liver
48	chr12:49305400-49311600	Weak transcription	HSMM	muscle
49	chr12:49305800-49311200	Weak transcription	Primary hematopoietic stem cells	blood

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