Variant report

Variant	rs8031937
Chromosome Location	chr15:75181121-75181122
allele	A/G
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:11)
LncRNA
region (count:0)
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	E2F6	chr15:75181097-75182709	K562	blood:	n/a	chr15:75182300-75182310 chr15:75181885-75181896 chr15:75182362-75182372 chr15:75181852-75181863
2	MAX	chr15:75181076-75181340	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:75163351..75167012-chr15:75180238..75185061,13	MCF-7	breast:
2	chr15:75131329..75142649-chr15:75180088..75200119,60	MCF-7	breast:
3	chr15:75180021..75183481-chr15:75226759..75230284,3	K562	blood:
4	chr15:75180371..75182934-chr15:75228872..75231935,3	MCF-7	breast:
5	chr15:75072512..75079183-chr15:75180576..75186728,11	MCF-7	breast:
6	chr15:75162469..75167536-chr15:75180880..75184902,6	K562	blood:
7	chr15:75181107..75185393-chr15:75190667..75200295,16	MCF-7	breast:
8	chr15:75180806..75183670-chr15:75227670..75231591,7	K562	blood:
9	chr15:75163342..75166719-chr15:75180364..75184673,7	MCF-7	breast:
10	chr15:75163901..75170368-chr15:75180139..75184021,10	K562	blood:
11	chr15:75133950..75137156-chr15:75180779..75184661,9	MCF-7	breast:

No data

Variant related genes	Relation type
MPI	TF binding region
ENSG00000178741	Chromatin interaction
ENSG00000260824	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000140497	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12442901	0.88[GIH][hapmap]
rs12906946	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12911781	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12914369	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1378938	0.88[GIH][hapmap]
rs1869959	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs2168519	0.85[GIH][hapmap]
rs2301249	0.85[GIH][hapmap]
rs4886615	0.83[CEU][hapmap];0.88[GIH][hapmap]
rs4886619	0.83[GIH][hapmap]
rs4886633	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495124	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6495126	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6495127	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6495131	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67411922	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7085	0.88[GIH][hapmap]
rs7162232	0.85[GIH][hapmap]
rs7174968	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7176022	0.83[GIH][hapmap]
rs7180484	0.88[GIH][hapmap]
rs7495033	0.91[EUR][1000 genomes]
rs7497201	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8025890	0.82[AFR][1000 genomes]
rs8033381	0.85[GIH][hapmap]
rs8042694	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9210	0.83[CEU][hapmap];0.86[GIH][hapmap]
rs936228	0.83[CEU][hapmap];0.88[GIH][hapmap]
rs936229	0.83[CEU][hapmap];0.88[GIH][hapmap]
rs936230	0.87[CEU][hapmap];0.95[GIH][hapmap]

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	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv990390	chr15:75179300-75187945	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8031937	ULK3	cis	Whole Blood	GTEx
rs8031937	MPI	cis	multi-tissue	Pritchard
rs8031937	C15orf17	cis	lymphoblastoid	seeQTL
rs8031937	MPI	Cis_1M	lymphoblastoid	RTeQTL
rs8031937	MPI	cis	lymphoblastoid	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75175400-75181200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:75176800-75181200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:75176800-75181400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:75176800-75181800	Weak transcription	A549	lung
5	chr15:75177000-75181200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr15:75177000-75181800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:75177200-75181400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr15:75177200-75181600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr15:75177200-75181800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:75177400-75181200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:75177400-75181200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:75177400-75181200	Weak transcription	NH-A	brain
13	chr15:75177400-75181400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:75177400-75181400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:75177400-75181600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr15:75177600-75181200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:75177600-75181200	Weak transcription	GM12878-XiMat	blood
18	chr15:75177600-75181400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr15:75177600-75181400	Weak transcription	HSMMtube	muscle
20	chr15:75177600-75181400	Weak transcription	NHLF	lung
21	chr15:75177600-75181400	Weak transcription	Osteobl	bone
22	chr15:75177800-75181400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:75177800-75181400	Weak transcription	Hela-S3	cervix
24	chr15:75177800-75181600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:75178000-75181200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:75178000-75181200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:75178000-75181200	Weak transcription	NHEK	skin
28	chr15:75178000-75181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:75178000-75181400	Weak transcription	HMEC	breast
30	chr15:75178000-75181400	Weak transcription	HSMM	muscle
31	chr15:75178200-75181200	Weak transcription	NHDF-Ad	bronchial
32	chr15:75178800-75181200	Weak transcription	Fetal Intestine Small	intestine
33	chr15:75179000-75181400	Weak transcription	Fetal Intestine Large	intestine
34	chr15:75180000-75181200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:75180000-75181200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:75180600-75181600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr15:75181000-75181200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:75181000-75181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:75181000-75181200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr15:75181000-75181200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr15:75181000-75181200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:75181000-75181200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:75181000-75181200	Enhancers	Brain Angular Gyrus	brain
44	chr15:75181000-75181200	Enhancers	Brain Anterior Caudate	brain
45	chr15:75181000-75181200	Enhancers	Colon Smooth Muscle	Colon
46	chr15:75181000-75181200	Enhancers	Dnd41	blood
47	chr15:75181000-75181200	Enhancers	K562	blood
48	chr15:75181000-75181400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr15:75181000-75181400	Enhancers	Brain Cingulate Gyrus	brain
50	chr15:75181000-75181400	Enhancers	Brain Hippocampus Middle	brain

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