Variant report

Variant	rs60628647
Chromosome Location	chr15:59355119-59355120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59224343..59226542-chr15:59353836..59355636,2	K562	blood:

Variant related genes	Relation type
ENSG00000137776	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11071408	0.80[ASN][1000 genomes]
rs12438949	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12441365	0.83[ASN][1000 genomes]
rs12443442	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941030	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941040	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941042	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941046	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941051	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941055	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941063	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16941069	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16953412	1.00[ASN][1000 genomes]
rs17236439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044436	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2414620	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28365901	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376133	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383490	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383491	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383497	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383502	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383504	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383512	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383513	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383514	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383519	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383520	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383523	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383531	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383536	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383542	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383545	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383546	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383549	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383551	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383552	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383553	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383561	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28399204	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28406885	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28491732	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615244	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28739024	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2899643	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3751538	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764193	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764194	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803449	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809531	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4523870	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56187627	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56294483	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56891889	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57057009	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57452205	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57750394	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57803886	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58014933	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58207484	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58321899	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58827061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59037515	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59398329	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59921711	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60533405	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60785075	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60899149	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60964484	0.82[EUR][1000 genomes]
rs61369543	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61690344	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7165934	0.80[ASN][1000 genomes]
rs73418826	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418888	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73418890	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73418896	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74017339	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74017345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74017356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74017357	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035850	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043536	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv510663	chr15:59310676-59370041	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
8	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
2	chr15:59308400-59358000	Weak transcription	Spleen	Spleen
3	chr15:59309200-59359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:59323600-59359000	Weak transcription	Esophagus	oesophagus
5	chr15:59326400-59365200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:59332400-59358200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:59342400-59364400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:59342400-59365400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:59344200-59356200	Strong transcription	K562	blood
10	chr15:59344200-59364400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:59344200-59364400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:59344400-59356200	Strong transcription	A549	lung
13	chr15:59344400-59358000	Weak transcription	Right Ventricle	heart
14	chr15:59344400-59363200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr15:59344400-59364200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:59344400-59392800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:59344600-59363200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr15:59344600-59363800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:59344600-59363800	Strong transcription	Fetal Thymus	thymus
20	chr15:59344800-59363000	Strong transcription	Hela-S3	cervix
21	chr15:59344800-59363200	Strong transcription	Primary B cells from cord blood	blood
22	chr15:59344800-59363800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr15:59344800-59363800	Strong transcription	Dnd41	blood
24	chr15:59344800-59364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:59344800-59364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:59344800-59366400	Strong transcription	Placenta	Placenta
27	chr15:59344800-59370400	Strong transcription	Primary T cells from cord blood	blood
28	chr15:59345000-59356000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:59345000-59363000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:59345200-59355600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:59345200-59355800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:59345200-59356600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr15:59345200-59363000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr15:59345200-59363800	Strong transcription	HSMM	muscle
35	chr15:59345400-59363000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:59345400-59363800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:59345400-59365200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:59345800-59365200	Strong transcription	Fetal Intestine Large	intestine
39	chr15:59346400-59355600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:59346600-59362000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:59347000-59360600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr15:59347400-59356000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:59347600-59356200	Strong transcription	HepG2	liver
44	chr15:59347600-59359800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr15:59347800-59355600	Strong transcription	HSMMtube	muscle
46	chr15:59347800-59361000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:59347800-59364400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr15:59348000-59364200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:59348600-59355600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr15:59348600-59363000	Strong transcription	NH-A	brain

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