Variant report

Variant	rs7531045
Chromosome Location	chr1:97188559-97188560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:97187688..97188569-chr12:6643781..6644363,2	Hela-S3	cervix:
2	chr1:97183615..97185204-chr1:97188330..97190541,2	K562	blood:

Variant related genes	Relation type
ENSG00000111640	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10875032	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165710	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165714	0.90[ASN][1000 genomes]
rs12022396	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12069825	0.81[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12071257	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs1591868	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17524886	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2021640	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2088251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2172980	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs273870	0.90[ASN][1000 genomes]
rs273876	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs273877	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs273885	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs273886	0.87[ASN][1000 genomes]
rs3009394	0.87[ASN][1000 genomes]
rs3748784	0.82[EUR][1000 genomes]
rs3748785	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3762409	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3762411	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3908925	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4576698	0.84[EUR][1000 genomes]
rs4949941	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4950005	0.84[EUR][1000 genomes]
rs541461	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs56257350	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs603231	0.81[ASN][1000 genomes]
rs6661004	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6673531	0.84[EUR][1000 genomes]
rs6683362	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs6698585	0.84[EUR][1000 genomes]
rs7533165	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7548031	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs7552545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554256	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7554259	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs996315	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830681	chr1:97165786-97338064	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3414899	chr1:97187980-97211076	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	esv1797391	chr1:97188394-97293023	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1801594	chr1:97188394-97293023	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7531045	PTBP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97186400-97188600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:97186400-97188600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr1:97186400-97189600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:97186400-97189600	Active TSS	NHDF-Ad	bronchial
5	chr1:97186400-97190000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:97186600-97188600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:97186600-97188600	Active TSS	Placenta	Placenta
8	chr1:97186600-97188800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:97186600-97188800	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:97186600-97189000	Active TSS	Fetal Intestine Large	intestine
11	chr1:97186600-97189000	Active TSS	Fetal Thymus	thymus
12	chr1:97186600-97189000	Active TSS	Psoas Muscle	Psoas
13	chr1:97186600-97189200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:97186600-97189200	Active TSS	Colonic Mucosa	Colon
15	chr1:97186600-97189200	Active TSS	Colon Smooth Muscle	Colon
16	chr1:97186600-97189200	Active TSS	Fetal Brain Male	brain
17	chr1:97186600-97189200	Active TSS	Fetal Muscle Trunk	muscle
18	chr1:97186600-97189200	Active TSS	Fetal Muscle Leg	muscle
19	chr1:97186600-97189200	Active TSS	Ovary	ovary
20	chr1:97186600-97189200	Active TSS	Thymus	Thymus
21	chr1:97186600-97189400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:97186600-97189600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:97186600-97189800	Active TSS	NHLF	lung
24	chr1:97186600-97190200	Active TSS	Stomach Smooth Muscle	stomach
25	chr1:97186800-97188600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:97186800-97188600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:97186800-97188600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:97186800-97188600	Active TSS	Esophagus	oesophagus
29	chr1:97186800-97188600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:97186800-97188600	Active TSS	HepG2	liver
31	chr1:97186800-97188800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr1:97186800-97188800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:97186800-97188800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:97186800-97188800	Active TSS	Brain Substantia Nigra	brain
35	chr1:97186800-97188800	Active TSS	Fetal Kidney	kidney
36	chr1:97186800-97188800	Active TSS	A549	lung
37	chr1:97186800-97189000	Active TSS	Right Ventricle	heart
38	chr1:97186800-97189000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr1:97186800-97189000	Active TSS	HSMM	muscle
40	chr1:97186800-97189200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:97186800-97189200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:97186800-97189200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:97186800-97189200	Active TSS	Aorta	Aorta
44	chr1:97186800-97189400	Active TSS	Brain Cingulate Gyrus	brain
45	chr1:97186800-97189400	Active TSS	Brain Hippocampus Middle	brain
46	chr1:97186800-97189400	Active TSS	Fetal Stomach	stomach
47	chr1:97186800-97190000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:97187000-97188600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:97187000-97188600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr1:97187000-97188600	Active TSS	Fetal Lung	lung

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