Variant report

Variant	rs2436994
Chromosome Location	chr15:76801063-76801064
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10851888	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs11072591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11072597	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072598	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072610	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs11072612	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs11072614	0.82[CHB][hapmap]
rs11072616	0.88[CEU][hapmap];0.87[CHB][hapmap];0.86[YRI][hapmap]
rs11629888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11632222	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11632670	0.87[CEU][hapmap];0.87[CHB][hapmap]
rs11632765	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs11634019	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11635463	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11637096	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs11637490	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11638767	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11856717	0.87[CHB][hapmap]
rs11857015	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11857327	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12437981	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs12440511	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs12440965	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs12591100	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12900179	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12903874	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12904417	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs12906143	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12909656	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs157783	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1607015	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1607017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2047504	0.91[CEU][hapmap];0.87[CHB][hapmap]
rs2048856	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs206205	0.83[ASN][1000 genomes]
rs2280306	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2404734	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs2436996	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2454450	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2454451	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs2454454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2459361	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2461870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2461871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2461872	0.81[CEU][hapmap];0.90[CHB][hapmap]
rs2468130	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2468131	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs283789	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs283793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs283795	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs284891	0.82[ASN][1000 genomes]
rs284892	0.81[ASN][1000 genomes]
rs284899	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs284909	0.83[ASN][1000 genomes]
rs2944378	0.82[ASN][1000 genomes]
rs2957614	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3765115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs437131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4886495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4886800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4886805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886816	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap]
rs4886819	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs56246286	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62028380	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62028406	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62028423	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62028434	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7165053	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs7181506	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs744336	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8029283	0.92[CEU][hapmap];0.91[CHB][hapmap]
rs8037847	0.91[CEU][hapmap];0.87[CHB][hapmap]
rs908817	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs965818	0.92[CEU][hapmap];0.87[CHB][hapmap];0.87[YRI][hapmap]

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	nsv542438	chr15:76697056-76892157	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv904400	chr15:76772062-77085283	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs2436994	SCAPER	cis	Whole Blood	GTEx
rs2436994	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs2436994	SCAPER	cis	lung	GTEx
rs2436994	SCAPER	cis	Adipose Subcutaneous	GTEx
rs2436994	SCAPER	cis	Thyroid	GTEx
rs2436994	SCAPER	cis	Artery Tibial	GTEx
rs2436994	RP11-685G9.2	cis	Whole Blood	GTEx
rs2436994	SCAPER	cis	Esophagus Mucosa	GTEx
rs2436994	SCAPER	cis	Nerve Tibial	GTEx
rs2436994	ZNF291	cis	lesional skin	skin_eQTL
rs2436994	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs2436994	ISL2	cis	Whole Blood	GTEx
rs2436994	ZNF291	cis	uninvolved skin	skin_eQTL
rs2436994	SCAPER	cis	Esophagus Muscularis	GTEx
rs2436994	ISL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76725800-76812600	Weak transcription	Left Ventricle	heart
2	chr15:76788400-76813600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr15:76790000-76802000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:76791200-76806200	Weak transcription	Fetal Muscle Leg	muscle
5	chr15:76792600-76801800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:76794000-76810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:76794200-76806400	Weak transcription	Gastric	stomach
8	chr15:76794800-76801200	Weak transcription	Right Ventricle	heart
9	chr15:76795200-76806800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:76795800-76810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:76796400-76805200	Weak transcription	Fetal Intestine Large	intestine
12	chr15:76796800-76806400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:76797000-76805000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:76797000-76806400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr15:76797200-76803600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:76797200-76804800	Weak transcription	Primary T cells from cord blood	blood
17	chr15:76797200-76806400	Weak transcription	Liver	Liver
18	chr15:76797400-76825000	Weak transcription	Primary B cells from cord blood	blood
19	chr15:76799800-76804800	Weak transcription	Fetal Intestine Small	intestine
20	chr15:76800400-76806000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:76801000-76804600	Weak transcription	Fetal Heart	heart

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