Variant report

Variant	rs4624108
Chromosome Location	chr15:52661430-52661431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52660821..52662604-chr15:52666187..52669062,2	K562	blood:
2	chr15:52656876..52658459-chr15:52661016..52663662,2	MCF-7	breast:
3	chr15:52606783..52608986-chr15:52658810..52661433,2	MCF-7	breast:
4	chr15:52660335..52662877-chr15:52670040..52672316,2	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10518683	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10518688	1.00[EUR][1000 genomes]
rs1104800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1108808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101973	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12913979	0.96[ASN][1000 genomes]
rs13329278	1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13329402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329417	1.00[EUR][1000 genomes]
rs13329500	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1669870	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1669872	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16964891	0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16964903	1.00[EUR][1000 genomes]
rs16964910	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16964915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16964919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16964921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16964924	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16964927	1.00[EUR][1000 genomes]
rs16964928	1.00[JPT][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]
rs16964935	1.00[EUR][1000 genomes]
rs16964944	1.00[EUR][1000 genomes]
rs16964952	1.00[EUR][1000 genomes]
rs2242059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2305419	1.00[CHB][hapmap]
rs2305420	1.00[CHB][hapmap]
rs2414137	1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414143	1.00[CHB][hapmap]
rs2414145	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28366864	1.00[EUR][1000 genomes]
rs28367336	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28367508	1.00[EUR][1000 genomes]
rs28374631	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28409760	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28415069	1.00[EUR][1000 genomes]
rs28415349	1.00[EUR][1000 genomes]
rs28426997	1.00[EUR][1000 genomes]
rs28444393	1.00[EUR][1000 genomes]
rs28462026	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475475	1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28479614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28480975	1.00[EUR][1000 genomes]
rs28488423	1.00[EUR][1000 genomes]
rs28496242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28503750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28508266	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28514341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28515624	1.00[EUR][1000 genomes]
rs28532168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28534436	1.00[EUR][1000 genomes]
rs28538563	1.00[EUR][1000 genomes]
rs28552981	1.00[EUR][1000 genomes]
rs28556657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28564655	1.00[EUR][1000 genomes]
rs28590330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28594692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28605633	1.00[EUR][1000 genomes]
rs28618215	1.00[AMR][1000 genomes]
rs28633243	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638475	1.00[EUR][1000 genomes]
rs28649737	1.00[EUR][1000 genomes]
rs28650960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28653534	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655190	1.00[EUR][1000 genomes]
rs28657676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28660682	1.00[EUR][1000 genomes]
rs28661501	1.00[EUR][1000 genomes]
rs28669685	1.00[AMR][1000 genomes]
rs28693941	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28697879	1.00[EUR][1000 genomes]
rs28735959	1.00[EUR][1000 genomes]
rs28756182	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3751617	1.00[CHB][hapmap]
rs3764230	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3794562	1.00[CHB][hapmap]
rs4499185	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774620	1.00[JPT][hapmap]
rs4774621	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4987194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57864537	1.00[EUR][1000 genomes]
rs58029714	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58812575	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7163242	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7163778	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7164164	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7164722	1.00[EUR][1000 genomes]
rs7164872	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7166034	1.00[EUR][1000 genomes]
rs7167181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167437	0.85[ASN][1000 genomes]
rs7167680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167890	0.91[AMR][1000 genomes]
rs7167916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168076	1.00[EUR][1000 genomes]
rs7168251	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169104	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7169346	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7170622	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171999	0.96[ASN][1000 genomes]
rs7178069	1.00[EUR][1000 genomes]
rs7179156	1.00[EUR][1000 genomes]
rs7182148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408415	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73408465	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73408469	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408478	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73410715	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410759	1.00[EUR][1000 genomes]
rs744501	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8023623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8024412	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8024624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8027637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8027777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8035199	1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040369	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040558	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8041819	1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8042235	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042245	0.92[YRI][hapmap];0.92[AMR][1000 genomes]
rs876549	1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9744852	1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9920739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9920749	1.00[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	esv1846455	chr15:52501831-52714452	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52609800-52677600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:52611800-52675800	Weak transcription	Gastric	stomach
3	chr15:52613600-52666600	Weak transcription	Right Ventricle	heart
4	chr15:52621200-52666600	Weak transcription	Fetal Brain Male	brain
5	chr15:52621800-52662200	Weak transcription	Psoas Muscle	Psoas
6	chr15:52630600-52684800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:52631600-52679200	Weak transcription	Fetal Intestine Small	intestine
8	chr15:52632600-52670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:52632800-52662200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:52633600-52662200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:52638000-52671600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:52640600-52666600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:52641800-52666800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:52644000-52664200	Weak transcription	NHLF	lung
15	chr15:52644000-52666600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:52644200-52680800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:52644600-52661600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:52644600-52662000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:52644600-52662200	Weak transcription	Fetal Muscle Leg	muscle
20	chr15:52644600-52662400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:52644600-52662400	Weak transcription	Fetal Stomach	stomach
22	chr15:52644600-52663800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:52644600-52663800	Weak transcription	Spleen	Spleen
24	chr15:52644600-52665400	Weak transcription	A549	lung
25	chr15:52644600-52730200	Weak transcription	Esophagus	oesophagus
26	chr15:52646000-52661600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:52646200-52661600	Weak transcription	Left Ventricle	heart
28	chr15:52646200-52663800	Weak transcription	Lung	lung
29	chr15:52647400-52690600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:52649000-52687200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:52649600-52670600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:52649600-52677600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:52649800-52662800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr15:52649800-52676400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:52650000-52670200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr15:52650000-52670400	Strong transcription	HUVEC	blood vessel
37	chr15:52650200-52669200	Strong transcription	Primary B cells from cord blood	blood
38	chr15:52650400-52666800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:52651000-52666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:52652200-52670400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:52653200-52663600	Weak transcription	Pancreas	Pancrea
42	chr15:52653400-52666600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr15:52653400-52666800	Weak transcription	Aorta	Aorta
44	chr15:52653600-52677400	Weak transcription	Colonic Mucosa	Colon
45	chr15:52654200-52661800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr15:52654400-52666400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:52654400-52666400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:52655000-52662400	Weak transcription	HMEC	breast
49	chr15:52655000-52666600	Weak transcription	Osteobl	bone
50	chr15:52655200-52662200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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