Variant report

Variant	rs1329651
Chromosome Location	chr10:93348014-93348015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:93342049..93343770-chr10:93347072..93349314,2	K562	blood:
2	chr10:93346595..93350402-chr10:93367133..93369211,4	K562	blood:
3	chr10:93346562..93349330-chr10:93365146..93366773,2	K562	blood:
4	chr10:93347598..93350963-chr10:93361481..93364970,4	K562	blood:
5	chr10:93347325..93349831-chr10:93667659..93669319,2	K562	blood:
6	chr10:93343792..93345929-chr10:93347595..93350391,2	MCF-7	breast:
7	chr10:93347896..93349521-chr10:93352949..93355020,2	K562	blood:
8	chr10:93341976..93343770-chr10:93346348..93349314,3	K562	blood:
9	chr10:93347950..93349480-chr10:93389392..93391120,2	MCF-7	breast:
10	chr10:93346543..93348493-chr10:93350509..93352475,2	K562	blood:
11	chr10:93336246..93341378-chr10:93343790..93348157,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174721	Chromatin interaction
ENSG00000272817	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10509627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571372	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573462	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473770	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17558637	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1854538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2210044	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55788052	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55934444	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387205	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56397936	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819256	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819257	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72819262	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819265	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819266	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819267	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821225	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821226	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821227	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821229	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821233	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][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	esv19622	chr10:93305214-93361590	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1329651	BTAF1	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93343000-93348200	Weak transcription	Fetal Intestine Large	intestine
2	chr10:93345200-93349800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr10:93345400-93348600	Enhancers	Fetal Heart	heart
4	chr10:93346200-93348200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr10:93346400-93351400	Enhancers	Aorta	Aorta
6	chr10:93346600-93348600	Weak transcription	Left Ventricle	heart
7	chr10:93346600-93350600	Weak transcription	Brain Substantia Nigra	brain
8	chr10:93346800-93350400	Enhancers	Fetal Lung	lung
9	chr10:93346800-93352200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:93346800-93352400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:93346800-93354600	Enhancers	Fetal Muscle Leg	muscle
12	chr10:93347000-93358800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:93347200-93348200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:93347200-93351600	Enhancers	Psoas Muscle	Psoas
15	chr10:93347400-93348400	Flanking Active TSS	K562	blood
16	chr10:93347400-93348600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:93347400-93348600	Enhancers	Colon Smooth Muscle	Colon
18	chr10:93347400-93349200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:93347400-93349400	Enhancers	NHEK	skin
20	chr10:93347400-93350000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:93347400-93350600	Enhancers	HSMMtube	muscle
22	chr10:93347400-93351800	Flanking Active TSS	Hela-S3	cervix
23	chr10:93347400-93352200	Enhancers	HUVEC	blood vessel
24	chr10:93347400-93352600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:93347400-93352800	Enhancers	HSMM	muscle
26	chr10:93347400-93352800	Enhancers	NHLF	lung
27	chr10:93347400-93353400	Enhancers	Ovary	ovary
28	chr10:93347400-93353800	Enhancers	Pancreas	Pancrea
29	chr10:93347400-93354400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:93347600-93348400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:93347600-93348400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:93347600-93348400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr10:93347600-93348600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr10:93347600-93348600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr10:93347600-93348600	Flanking Active TSS	Osteobl	bone
36	chr10:93347600-93348800	Enhancers	HMEC	breast
37	chr10:93347600-93348800	Flanking Active TSS	NH-A	brain
38	chr10:93347600-93351000	Enhancers	Rectal Smooth Muscle	rectum
39	chr10:93347600-93351200	Enhancers	Right Ventricle	heart
40	chr10:93347600-93351800	Flanking Active TSS	A549	lung
41	chr10:93347600-93352600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:93347600-93353200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:93347600-93353400	Enhancers	Right Atrium	heart
44	chr10:93347600-93358800	Enhancers	Fetal Stomach	stomach
45	chr10:93347800-93348200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:93347800-93348200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:93347800-93348600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:93347800-93348600	Weak transcription	Placenta	Placenta
49	chr10:93347800-93349200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:93348000-93348200	Flanking Active TSS	NHDF-Ad	bronchial

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