Variant report

Variant	rs11855923
Chromosome Location	chr15:40892601-40892602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40886701..40889426-chr15:40891344..40893759,6	K562	blood:
2	chr15:40884775..40889412-chr15:40891344..40893699,4	K562	blood:
3	chr15:40891684..40893459-chr15:40895042..40898185,3	K562	blood:
4	chr15:40885453..40889307-chr15:40890037..40892852,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137812	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1037445	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10400890	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10400901	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10444817	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11070275	0.96[CEU][hapmap]
rs11070277	0.82[EUR][1000 genomes]
rs11070282	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070285	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11070286	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11632061	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11632370	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11638742	0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs11852670	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11852694	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11852828	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11854986	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11855334	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11856438	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11856802	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11858113	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11858938	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12591207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594548	0.96[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs12595610	0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs12902568	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12904801	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12905162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12912058	0.81[JPT][hapmap]
rs12912635	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12913697	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12914743	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16970851	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1811513	0.83[EUR][1000 genomes]
rs1813898	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1869301	0.96[CEU][hapmap]
rs1869302	0.92[CEU][hapmap]
rs1967368	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2034651	0.92[CEU][hapmap]
rs2412531	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2412532	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2412534	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2412544	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2444302	0.92[CEU][hapmap]
rs2898996	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2924387	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2924388	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2959536	0.96[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs3092979	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34845954	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35047458	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3751652	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3751653	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4080706	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4410047	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4923875	0.82[EUR][1000 genomes]
rs4923876	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs4924472	0.92[CEU][hapmap]
rs4924478	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4924479	0.82[EUR][1000 genomes]
rs4924480	0.82[EUR][1000 genomes]
rs4924481	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs4924488	0.81[JPT][hapmap]
rs619711	0.84[CEU][hapmap]
rs62019916	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62019918	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6492947	0.88[CEU][hapmap]
rs6492951	0.82[EUR][1000 genomes]
rs6582	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71471881	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7169621	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7177192	0.81[JPT][hapmap]
rs7181074	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7182530	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7183790	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7494968	0.96[CEU][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs8026605	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8029384	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8034043	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8034048	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8034726	0.87[YRI][hapmap]
rs8035775	0.81[JPT][hapmap]
rs8036737	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8037804	0.81[JPT][hapmap]
rs8038407	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8040502	0.81[JPT][hapmap]
rs8041534	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8042729	0.83[JPT][hapmap]
rs896795	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs976401	0.84[EUR][1000 genomes]
rs9806410	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:28)

SNP	Gene	Cis/trans	Tissue	Source
rs11855923	C15orf57	cis	Lymphoblastoid	GTEx
rs11855923	RP11-111A22.1	cis	Muscle Skeletal	GTEx
rs11855923	C15orf57	cis	Nerve Tibial	GTEx
rs11855923	ZFYVE19	cis	multi-tissue	Pritchard
rs11855923	C15orf57	cis	Artery Tibial	GTEx
rs11855923	C15orf57	cis	Heart Left Ventricle	GTEx
rs11855923	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs11855923	RP11-111A22.1	cis	lung	GTEx
rs11855923	C15orf57	cis	Cerebellum	GTEx
rs11855923	C15orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs11855923	C15orf57	cis	Thyroid	GTEx
rs11855923	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs11855923	RP11-111A22.1	cis	Artery Aorta	GTEx
rs11855923	C15orf57	cis	Stomach	GTEx
rs11855923	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs11855923	C15orf57	cis	Esophagus Mucosa	GTEx
rs11855923	RP11-111A22.1	cis	Nerve Tibial	GTEx
rs11855923	C15orf57	cis	Artery Aorta	GTEx
rs11855923	C15orf57	cis	lung	GTEx
rs11855923	CCDC32	cis	multi-tissue	Pritchard
rs11855923	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs11855923	C15orf57	cis	Muscle Skeletal	GTEx
rs11855923	CCDC32	cis	lesional skin	skin_eQTL
rs11855923	C15orf57	cis	Adipose Subcutaneous	GTEx
rs11855923	RP11-111A22.1	cis	Artery Tibial	GTEx
rs11855923	RP11-111A22.1	cis	Stomach	GTEx
rs11855923	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs11855923	C15orf57	cis	Esophagus Muscularis	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40887200-40893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:40887200-40898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:40887600-40898800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:40887600-40902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:40887600-40941800	Weak transcription	Fetal Intestine Large	intestine
6	chr15:40887800-40895400	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:40887800-40898800	Weak transcription	Fetal Stomach	stomach
8	chr15:40887800-40902000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:40887800-40933200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:40887800-40942200	Weak transcription	Primary B cells from cord blood	blood
11	chr15:40887800-40948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:40887800-40961600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:40888000-40892800	Weak transcription	Fetal Heart	heart
14	chr15:40888000-40895000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr15:40888000-40895800	Weak transcription	Thymus	Thymus
16	chr15:40888000-40897800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:40888000-40898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:40888000-40898600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:40888000-40899400	Weak transcription	HSMM	muscle
20	chr15:40888000-40901200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:40888000-40903400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:40888000-40956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:40888200-40897800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:40888200-40898600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:40888200-40898800	Weak transcription	NH-A	brain
26	chr15:40888200-40902200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:40888200-40912800	Weak transcription	HMEC	breast
28	chr15:40888400-40892800	Weak transcription	Brain Germinal Matrix	brain
29	chr15:40888400-40895800	Weak transcription	Fetal Thymus	thymus
30	chr15:40888400-40897800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:40888400-40898000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:40888400-40898200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:40888400-40898800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:40888400-40898800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:40888400-40898800	Weak transcription	Fetal Intestine Small	intestine
36	chr15:40888400-40899800	Weak transcription	HUVEC	blood vessel
37	chr15:40888400-40900800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:40888400-40913200	Weak transcription	NHDF-Ad	bronchial
39	chr15:40888400-40913600	Weak transcription	NHLF	lung
40	chr15:40888400-40923200	Weak transcription	Osteobl	bone
41	chr15:40888400-40925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:40888400-40944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:40889600-40895200	Weak transcription	Hela-S3	cervix
44	chr15:40889600-40898000	Weak transcription	K562	blood
45	chr15:40889600-40901400	Weak transcription	HepG2	liver
46	chr15:40889800-40893000	Weak transcription	GM12878-XiMat	blood
47	chr15:40890400-40893000	Weak transcription	Dnd41	blood
48	chr15:40890600-40893200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:40890800-40895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:40890800-40895600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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