Variant report

Variant	rs10518998
Chromosome Location	chr15:59400899-59400900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59388228..59393746-chr15:59399093..59403821,6	K562	blood:
2	chr15:59331014..59335306-chr15:59398814..59401830,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11574500	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11574501	0.94[EUR][1000 genomes]
rs13498	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16940958	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs16940976	0.93[AMR][1000 genomes]
rs16941012	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16941048	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941077	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs28383495	0.94[EUR][1000 genomes]
rs28739021	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28739025	0.94[EUR][1000 genomes]
rs57164516	0.88[EUR][1000 genomes]
rs6494052	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6494058	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6494067	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7164061	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7171252	0.83[EUR][1000 genomes]
rs7173787	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7173999	0.94[EUR][1000 genomes]
rs7174992	0.82[EUR][1000 genomes]
rs7175697	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7177112	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7180666	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7181728	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs74017367	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8026039	1.00[EUR][1000 genomes]
rs8027376	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8030514	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs8030811	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8032299	0.88[EUR][1000 genomes]
rs8035952	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8041633	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8042601	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
2	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
3	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
4	esv3328384	chr15:59400733-59400933	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59397800-59415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:59397800-59450000	Weak transcription	Small Intestine	intestine
3	chr15:59398000-59407200	Weak transcription	Stomach Mucosa	stomach
4	chr15:59398000-59409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:59398000-59412200	Weak transcription	Spleen	Spleen
6	chr15:59398000-59423200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:59398000-59423400	Weak transcription	Esophagus	oesophagus
8	chr15:59398000-59425600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:59398000-59426000	Weak transcription	Lung	lung
10	chr15:59398000-59426200	Weak transcription	HSMMtube	muscle
11	chr15:59398000-59426400	Weak transcription	Left Ventricle	heart
12	chr15:59398000-59427200	Weak transcription	Pancreas	Pancrea
13	chr15:59398000-59427400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:59398000-59462000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:59398200-59408600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:59398200-59409400	Weak transcription	Primary B cells from cord blood	blood
17	chr15:59398200-59410400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:59398200-59415200	Weak transcription	Colonic Mucosa	Colon
19	chr15:59398200-59423800	Weak transcription	Fetal Brain Male	brain
20	chr15:59398400-59402400	Weak transcription	Fetal Heart	heart
21	chr15:59398400-59402600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:59398400-59402600	Weak transcription	Fetal Intestine Small	intestine
23	chr15:59398400-59402800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:59398400-59406600	Weak transcription	Fetal Kidney	kidney
25	chr15:59398400-59407000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:59398400-59408600	Weak transcription	Primary T cells from cord blood	blood
27	chr15:59398400-59409200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:59398400-59409200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:59398400-59409400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:59398600-59406600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:59398600-59409200	Weak transcription	Brain Germinal Matrix	brain
32	chr15:59398600-59422600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:59398800-59405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:59399000-59403600	Genic enhancers	Dnd41	blood
35	chr15:59399200-59417600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:59399200-59419600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:59399200-59420200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:59399200-59421600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:59399400-59401200	Strong transcription	K562	blood
40	chr15:59399400-59404400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:59399400-59404600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:59399400-59404800	Strong transcription	A549	lung
43	chr15:59399400-59404800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr15:59399400-59413800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:59399400-59417400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:59399400-59418800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr15:59399400-59419600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:59399600-59401200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:59399600-59401200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:59399600-59401400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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