Variant report

Variant	rs10518696
Chromosome Location	chr15:40898017-40898018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40891684..40893459-chr15:40895042..40898185,3	K562	blood:
2	chr15:40884637..40889853-chr15:40895293..40899936,6	K562	blood:
3	chr15:40884808..40888126-chr15:40896275..40900248,4	K562	blood:

Variant related genes	Relation type
ENSG00000137812	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10444792	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10851397	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11070276	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11070278	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11632319	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12442697	1.00[CEU][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12916218	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1453182	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs1530942	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1530943	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16970734	0.87[EUR][1000 genomes]
rs16970854	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1801320	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1869303	1.00[CEU][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2014367	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2034653	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2278887	0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs2278889	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2290379	1.00[CEU][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2304579	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes]
rs2412528	0.87[EUR][1000 genomes]
rs2412530	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2924389	1.00[CEU][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2959535	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2959547	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3803354	1.00[CEU][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4467046	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45455000	0.80[EUR][1000 genomes]
rs45503494	0.80[EUR][1000 genomes]
rs45507396	0.80[EUR][1000 genomes]
rs45559631	0.81[EUR][1000 genomes]
rs45579836	0.80[EUR][1000 genomes]
rs45585734	0.80[EUR][1000 genomes]
rs4561439	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4923873	0.87[EUR][1000 genomes]
rs4923877	1.00[CEU][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs4923878	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4923879	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4924473	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4924474	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4924476	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4924482	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4924483	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5030786	0.82[EUR][1000 genomes]
rs57140606	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57736474	0.98[EUR][1000 genomes]
rs582736	0.86[CEU][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs58458955	0.86[EUR][1000 genomes]
rs589650	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs59654927	0.86[EUR][1000 genomes]
rs60408076	0.82[EUR][1000 genomes]
rs607118	0.89[EUR][1000 genomes]
rs611933	0.86[CEU][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap]
rs61381741	0.86[EUR][1000 genomes]
rs617031	0.89[EUR][1000 genomes]
rs623187	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs624486	0.86[CEU][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap]
rs640919	0.89[EUR][1000 genomes]
rs6492952	0.82[EUR][1000 genomes]
rs6492953	0.94[EUR][1000 genomes]
rs6492955	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs667623	0.88[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs7163648	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7163889	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7164056	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7164166	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7164405	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7167239	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7167922	1.00[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7168913	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7168927	0.89[EUR][1000 genomes]
rs7170073	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7170327	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7170946	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73396510	0.98[EUR][1000 genomes]
rs73396515	0.98[EUR][1000 genomes]
rs8024579	1.00[CEU][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8024802	1.00[CEU][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8029208	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8032453	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8033739	0.89[EUR][1000 genomes]
rs8034726	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8038350	0.82[EUR][1000 genomes]
rs8040187	1.00[CEU][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8041816	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs8041991	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8043197	0.89[EUR][1000 genomes]
rs896797	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs921624	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9284288	0.89[EUR][1000 genomes]
rs976402	1.00[CEU][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9783737	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40887200-40898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:40887600-40898800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:40887600-40902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:40887600-40941800	Weak transcription	Fetal Intestine Large	intestine
5	chr15:40887800-40898800	Weak transcription	Fetal Stomach	stomach
6	chr15:40887800-40902000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:40887800-40933200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:40887800-40942200	Weak transcription	Primary B cells from cord blood	blood
9	chr15:40887800-40948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:40887800-40961600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:40888000-40898600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:40888000-40899400	Weak transcription	HSMM	muscle
13	chr15:40888000-40901200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:40888000-40903400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:40888000-40956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:40888200-40898600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:40888200-40898800	Weak transcription	NH-A	brain
18	chr15:40888200-40902200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:40888200-40912800	Weak transcription	HMEC	breast
20	chr15:40888400-40898200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:40888400-40898800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:40888400-40898800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:40888400-40898800	Weak transcription	Fetal Intestine Small	intestine
24	chr15:40888400-40899800	Weak transcription	HUVEC	blood vessel
25	chr15:40888400-40900800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:40888400-40913200	Weak transcription	NHDF-Ad	bronchial
27	chr15:40888400-40913600	Weak transcription	NHLF	lung
28	chr15:40888400-40923200	Weak transcription	Osteobl	bone
29	chr15:40888400-40925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:40888400-40944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:40889600-40901400	Weak transcription	HepG2	liver
32	chr15:40890800-40899000	Weak transcription	NHEK	skin
33	chr15:40890800-40904800	Weak transcription	A549	lung
34	chr15:40890800-40925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:40893400-40907200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:40893600-40922600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:40895000-40903200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr15:40895200-40898800	Strong transcription	Hela-S3	cervix
39	chr15:40895800-40899600	Strong transcription	Thymus	Thymus
40	chr15:40895800-40905200	Strong transcription	Fetal Thymus	thymus
41	chr15:40895800-40905600	Strong transcription	Dnd41	blood
42	chr15:40896000-40910200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:40896200-40898800	Weak transcription	Fetal Muscle Leg	muscle
44	chr15:40896800-40898200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:40896800-40910400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:40897800-40899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:40897800-40903000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr15:40897800-40957200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:40898000-40899600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:40898000-40900000	Strong transcription	GM12878-XiMat	blood

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