Variant report

Variant	rs8009536
Chromosome Location	chr14:105884423-105884424
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105884163-105884599	HepG2	liver:	n/a	n/a
2	ZNF263	chr14:105884094-105884625	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105884344..105887645-chr14:105955564..105958862,3	K562	blood:
2	chr14:105861905..105865753-chr14:105884230..105887422,5	K562	blood:
3	chr14:105884242..105887668-chr14:105902479..105906192,4	MCF-7	breast:
4	chr14:105884288..105888783-chr14:105938542..105943341,7	MCF-7	breast:
5	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
6	chr14:105865997..105868726-chr14:105883403..105885353,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRF1-1	chr14:105883948-105884649	NONHSAT040349
2	lnc-BRF1-1	chr14:105883948-105884646	NONHSAT040348
3	lnc-BRF1-1	chr14:105883948-105884649	NONHSAT040350

No data

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000185347	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000213145	Chromatin interaction
ENSG00000256498	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000182809	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10132193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133343	1.00[AMR][1000 genomes]
rs10133666	1.00[AMR][1000 genomes]
rs10136894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137499	1.00[AMR][1000 genomes]
rs10142763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150076	1.00[AMR][1000 genomes]
rs10151345	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10152000	1.00[AMR][1000 genomes]
rs11847920	1.00[AMR][1000 genomes]
rs11850681	1.00[AMR][1000 genomes]
rs11850746	1.00[AMR][1000 genomes]
rs28406946	1.00[AMR][1000 genomes]
rs28419155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451686	1.00[AMR][1000 genomes]
rs28482150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507499	1.00[AMR][1000 genomes]
rs28537945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28539444	1.00[AMR][1000 genomes]
rs28545230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28547922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28588179	1.00[AMR][1000 genomes]
rs28665678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28678078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28678492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28710336	1.00[AMR][1000 genomes]
rs28733380	1.00[AMR][1000 genomes]
rs28741003	0.85[AFR][1000 genomes]
rs4073351	1.00[AMR][1000 genomes]
rs4073352	1.00[AMR][1000 genomes]
rs56734561	1.00[AMR][1000 genomes]
rs61326617	1.00[AMR][1000 genomes]
rs7158718	1.00[AMR][1000 genomes]
rs73361045	1.00[AMR][1000 genomes]
rs8009750	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9743768	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9989145	0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8009536	SH2D1A	trans	lymphoblastoid	seeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105878200-105885200	Weak transcription	NHDF-Ad	bronchial
2	chr14:105881600-105884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:105881600-105884600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:105881600-105885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:105881600-105885200	Weak transcription	Right Atrium	heart
6	chr14:105881600-105885400	Weak transcription	Left Ventricle	heart
7	chr14:105881600-105885400	Weak transcription	HMEC	breast
8	chr14:105881800-105884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:105881800-105884600	Weak transcription	Pancreas	Pancrea
10	chr14:105881800-105884800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:105881800-105884800	Weak transcription	Lung	lung
12	chr14:105881800-105884800	Weak transcription	NHLF	lung
13	chr14:105881800-105885000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:105881800-105885000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:105881800-105885000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:105881800-105885000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:105881800-105885000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:105881800-105885000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:105881800-105885000	Weak transcription	Brain Substantia Nigra	brain
20	chr14:105881800-105885000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:105881800-105885000	Weak transcription	Fetal Lung	lung
22	chr14:105881800-105885000	Weak transcription	Gastric	stomach
23	chr14:105881800-105885000	Weak transcription	Right Ventricle	heart
24	chr14:105881800-105885200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:105881800-105885200	Weak transcription	HSMM	muscle
26	chr14:105881800-105885400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:105881800-105885400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:105881800-105885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:105881800-105885400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:105881800-105885600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:105882000-105884800	Weak transcription	Hela-S3	cervix
32	chr14:105882000-105885000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:105882000-105885000	Weak transcription	Brain Angular Gyrus	brain
34	chr14:105882000-105885000	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:105882000-105885200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:105882000-105885200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:105882000-105885200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:105882000-105885200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:105882000-105885200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:105882000-105885200	Weak transcription	Brain Anterior Caudate	brain
41	chr14:105882000-105885200	Weak transcription	Fetal Kidney	kidney
42	chr14:105882000-105885200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:105882000-105885200	Weak transcription	A549	lung
44	chr14:105882000-105885200	Weak transcription	HUVEC	blood vessel
45	chr14:105882000-105885200	Weak transcription	NH-A	brain
46	chr14:105882000-105885200	Weak transcription	Osteobl	bone
47	chr14:105882000-105885400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:105882000-105885400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:105882000-105885400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:105882000-105885400	Weak transcription	NHEK	skin

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