Variant report

Variant	rs8001311
Chromosome Location	chr13:52031495-52031496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:52029221-52031973	K562	blood:	n/a	n/a
2	POLR2A	chr13:52030169-52031714	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr13:52031461-52031682	HepG2	liver:	n/a	n/a
4	POLR2A	chr13:52029509-52031916	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:52025794..52034237-chr13:52040132..52048046,20	K562	blood:
2	chr13:52029332..52032158-chr13:52157074..52159871,2	K562	blood:
3	chr13:52022042..52032158-chr13:52153162..52160287,46	K562	blood:

Variant related genes	Relation type
INTS6	TF binding region
RPS4XP16	TF binding region
ENSG00000243900	Chromatin interaction
ENSG00000139668	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs17075688	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2026526	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2026527	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2274061	0.80[ASN][1000 genomes]
rs2274929	0.82[ASN][1000 genomes]
rs3825524	0.81[ASN][1000 genomes]
rs6561634	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73197809	0.84[EUR][1000 genomes]
rs73197821	0.98[EUR][1000 genomes]
rs73197824	0.89[EUR][1000 genomes]
rs73197826	0.94[EUR][1000 genomes]
rs7333661	0.82[ASN][1000 genomes]
rs7335141	0.81[ASN][1000 genomes]
rs7335144	0.80[EUR][1000 genomes]
rs7989674	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7989850	0.98[EUR][1000 genomes]
rs7998084	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8001787	0.83[ASN][1000 genomes]
rs9316539	0.82[ASN][1000 genomes]
rs9316541	0.80[EUR][1000 genomes]
rs9316545	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9316546	0.96[EUR][1000 genomes]
rs9526754	0.82[ASN][1000 genomes]
rs9526757	0.96[ASN][1000 genomes]
rs9526759	0.80[EUR][1000 genomes]
rs9526761	0.84[EUR][1000 genomes]
rs9526764	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9526768	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535653	0.80[ASN][1000 genomes]
rs9535661	0.80[EUR][1000 genomes]
rs9535662	0.80[EUR][1000 genomes]
rs9535663	0.80[EUR][1000 genomes]
rs9535665	0.82[EUR][1000 genomes]
rs9535669	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535670	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9535671	0.98[EUR][1000 genomes]
rs9535672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535673	1.00[ASN][1000 genomes]
rs9535674	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535677	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535678	0.93[EUR][1000 genomes]
rs9535679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535680	0.93[EUR][1000 genomes]
rs9535682	0.95[EUR][1000 genomes]
rs9535683	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9535687	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535688	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535689	0.94[EUR][1000 genomes]
rs9535690	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535693	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535694	0.89[EUR][1000 genomes]
rs9535696	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535697	0.93[EUR][1000 genomes]
rs9535699	0.89[EUR][1000 genomes]
rs9568600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568603	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568608	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568612	0.94[EUR][1000 genomes]
rs9634842	0.84[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8001311	INTS6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52028600-52032200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:52028600-52034000	Weak transcription	Aorta	Aorta
3	chr13:52028600-52036000	Weak transcription	HSMMtube	muscle
4	chr13:52028800-52031600	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr13:52028800-52032000	Weak transcription	Osteobl	bone
6	chr13:52029000-52031800	Weak transcription	NHDF-Ad	bronchial
7	chr13:52029000-52032600	Weak transcription	NHLF	lung
8	chr13:52029000-52033400	Weak transcription	NHEK	skin
9	chr13:52029000-52034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:52029600-52031600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:52029600-52031600	Strong transcription	Ovary	ovary
12	chr13:52029600-52031600	Genic enhancers	Pancreas	Pancrea
13	chr13:52029600-52031600	ZNF genes & repeats	Thymus	Thymus
14	chr13:52029800-52031800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:52029800-52032000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr13:52030200-52031800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:52030400-52031800	Strong transcription	Fetal Muscle Leg	muscle
18	chr13:52030400-52035200	Weak transcription	HSMM	muscle
19	chr13:52030600-52031600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr13:52030600-52031800	Weak transcription	Brain Angular Gyrus	brain
21	chr13:52030600-52031800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr13:52030600-52032200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr13:52030600-52032200	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:52030600-52032400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:52030600-52032400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:52030600-52035800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:52030600-52036000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr13:52030600-52038800	Weak transcription	HepG2	liver
29	chr13:52030800-52031800	Strong transcription	Primary B cells from cord blood	blood
30	chr13:52030800-52032000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr13:52030800-52032200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr13:52030800-52032400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:52030800-52032400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr13:52030800-52032400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr13:52030800-52032400	Weak transcription	Psoas Muscle	Psoas
36	chr13:52030800-52032400	Weak transcription	Right Ventricle	heart
37	chr13:52030800-52032600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:52030800-52033000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:52030800-52033800	Weak transcription	Placenta	Placenta
40	chr13:52030800-52034400	Weak transcription	Adipose Nuclei	Adipose
41	chr13:52030800-52035400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr13:52030800-52035400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr13:52030800-52036000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:52030800-52036000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:52030800-52036200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr13:52030800-52036200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr13:52031000-52031600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:52031000-52032000	Weak transcription	Fetal Intestine Large	intestine
49	chr13:52031000-52032400	Weak transcription	Fetal Intestine Small	intestine
50	chr13:52031000-52032600	Weak transcription	Muscle Satellite Cultured Cells	--

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