Variant report

Variant	rs10851410
Chromosome Location	chr15:42844788-42844789
allele	A/G
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	EBF1	chr15:42844712-42844969	GM12878	blood:	n/a	chr15:42844823-42844833 chr15:42844821-42844832 chr15:42844823-42844832 chr15:42844821-42844834

No.	Distal block	Cell Line	Cell type
1	chr15:42831892..42833394-chr15:42842202..42844793,2	K562	blood:
2	chr15:42840492..42842476-chr15:42843161..42844995,3	K562	blood:
3	chr15:42840518..42843126-chr15:42843654..42845659,3	MCF-7	breast:
4	chr15:42844616..42847255-chr15:42852091..42854102,2	K562	blood:

Variant related genes	Relation type
LRRC57	TF binding region
ENSG00000180979	Chromatin interaction
ENSG00000137814	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10454039	0.93[EUR][1000 genomes]
rs10518766	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1060291	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10851411	0.86[CEU][hapmap];0.85[TSI][hapmap];0.94[EUR][1000 genomes]
rs11022	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11070374	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs11070376	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11631193	0.93[EUR][1000 genomes]
rs11636577	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12324113	0.86[EUR][1000 genomes]
rs12324717	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12903432	0.88[EUR][1000 genomes]
rs12906697	0.93[EUR][1000 genomes]
rs16973171	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973175	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973320	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17766532	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1900921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2241998	1.00[CEU][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs2255995	0.87[EUR][1000 genomes]
rs2595939	0.88[EUR][1000 genomes]
rs2595940	0.95[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs2595941	0.87[EUR][1000 genomes]
rs2617236	0.95[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs28364347	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2899051	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2899057	0.82[EUR][1000 genomes]
rs2899059	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34359922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34643746	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3986280	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4573906	0.88[EUR][1000 genomes]
rs4923948	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4924684	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4924687	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs56357092	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60380503	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8033412	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9302112	0.95[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10851410	SNAP23	cis	parietal	SCAN
rs10851410	MAP1A	cis	parietal	SCAN
rs10851410	TMCO5A	cis	parietal	SCAN
rs10851410	CEP27	Cis_1M	lymphoblastoid	RTeQTL
rs10851410	INO80	cis	parietal	SCAN
rs10851410	RINT1	trans	cerebellum	SCAN
rs10851410	MAP1A	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42841600-42850800	Weak transcription	Pancreas	Pancrea
2	chr15:42841600-42851000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:42841600-42851200	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:42841600-42851600	Weak transcription	Lung	lung
5	chr15:42841600-42852000	Weak transcription	Gastric	stomach
6	chr15:42841600-42853600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:42841600-42854200	Weak transcription	Aorta	Aorta
8	chr15:42841600-42854200	Weak transcription	Esophagus	oesophagus
9	chr15:42841600-42854200	Weak transcription	Spleen	Spleen
10	chr15:42841600-42866800	Weak transcription	Stomach Mucosa	stomach
11	chr15:42841800-42848800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:42841800-42850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:42841800-42857000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:42841800-42867000	Weak transcription	Ovary	ovary
15	chr15:42842200-42848600	Weak transcription	Fetal Intestine Large	intestine
16	chr15:42842200-42850200	Weak transcription	Primary T cells from cord blood	blood
17	chr15:42842200-42850400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:42842200-42850800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:42842200-42851000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:42842200-42851400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:42842200-42853000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:42842200-42854200	Weak transcription	Right Ventricle	heart
23	chr15:42842200-42856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:42842200-42867000	Weak transcription	Psoas Muscle	Psoas
25	chr15:42842400-42844800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr15:42842400-42845800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:42842400-42848000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:42842400-42848800	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:42842400-42849800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:42842400-42849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:42842400-42849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:42842400-42849800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:42842400-42850400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:42842400-42850400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:42842400-42850600	Weak transcription	Fetal Intestine Small	intestine
36	chr15:42842400-42850800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr15:42842400-42850800	Weak transcription	HMEC	breast
38	chr15:42842400-42851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:42842400-42851000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:42842400-42851000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:42842400-42851000	Weak transcription	Liver	Liver
42	chr15:42842400-42851000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:42842400-42851200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:42842400-42851400	Weak transcription	Placenta	Placenta
45	chr15:42842400-42851400	Weak transcription	Left Ventricle	heart
46	chr15:42842400-42851400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr15:42842400-42851400	Weak transcription	HSMMtube	muscle
48	chr15:42842400-42851600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:42842400-42851600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr15:42842400-42851600	Weak transcription	Stomach Smooth Muscle	stomach

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