Variant report

Variant	rs1028736
Chromosome Location	chr1:94986888-94986889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11799679	0.82[YRI][hapmap]
rs11809823	0.85[YRI][hapmap]
rs11811963	1.00[AMR][1000 genomes]
rs1624081	1.00[MEX][hapmap]
rs17100426	1.00[MEX][hapmap]
rs3789685	1.00[ASN][1000 genomes]
rs3917608	1.00[ASN][1000 genomes]
rs6683092	1.00[MEX][hapmap]
rs6701812	0.88[YRI][hapmap]
rs72968370	0.86[ASN][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	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1028736	BCAR3	cis	lymphoblastoid	seeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
2	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
3	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
5	chr1:94942400-94997200	Weak transcription	Right Ventricle	heart
6	chr1:94946400-94993000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:94952800-94987800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:94952800-94993000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:94952800-94993400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:94956200-95004000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:94956600-94987200	Weak transcription	Fetal Heart	heart
12	chr1:94958400-94992200	Weak transcription	NHDF-Ad	bronchial
13	chr1:94958400-94993200	Weak transcription	NH-A	brain
14	chr1:94958600-94987600	Weak transcription	Primary B cells from cord blood	blood
15	chr1:94958600-95004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:94962000-94988000	Weak transcription	HUVEC	blood vessel
17	chr1:94965400-94987800	Weak transcription	GM12878-XiMat	blood
18	chr1:94965400-94995800	Weak transcription	HSMM	muscle
19	chr1:94965600-94988200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:94965600-95000400	Weak transcription	Small Intestine	intestine
21	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:94966200-94993000	Weak transcription	Hela-S3	cervix
23	chr1:94967200-94993000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:94969200-94987000	Weak transcription	Osteobl	bone
25	chr1:94969200-94996200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:94969200-95000400	Weak transcription	Colonic Mucosa	Colon
27	chr1:94969400-94988000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:94970200-94993000	Weak transcription	Brain Anterior Caudate	brain
29	chr1:94970400-94993200	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:94970400-94996000	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:94970400-95003800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:94971000-94993000	Weak transcription	Ovary	ovary
33	chr1:94971000-94996600	Weak transcription	Fetal Stomach	stomach
34	chr1:94971000-94999800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:94971400-94995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:94972200-94990200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:94972200-94992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:94972200-94993200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:94972200-95004400	Weak transcription	A549	lung
40	chr1:94972400-94987200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:94972400-94987400	Weak transcription	Thymus	Thymus
42	chr1:94972400-94987800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:94972400-94988000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:94972400-94993000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:94972400-94993200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:94972400-94993200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:94972400-94993400	Weak transcription	Adipose Nuclei	Adipose
48	chr1:94972400-94994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:94972400-94994400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:94972400-94995600	Weak transcription	Left Ventricle	heart

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