Variant report

Variant	rs11857498
Chromosome Location	chr15:74292804-74292805
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	chr15:74276152..74278081-chr15:74290806..74293651,2	K562	blood:
2	chr15:74288636..74290848-chr15:74291772..74294059,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140464	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1052242	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1052246	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10851866	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10851867	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851868	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11072458	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11072461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072463	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072464	0.80[AMR][1000 genomes]
rs11633735	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11635930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636016	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11636065	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11636150	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11854321	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593528	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899085	0.82[AMR][1000 genomes]
rs12901603	0.81[AMR][1000 genomes]
rs12902857	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12902945	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12904213	0.80[AMR][1000 genomes]
rs12908748	0.82[AMR][1000 genomes]
rs12910581	0.89[AMR][1000 genomes]
rs12911807	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12911984	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2165242	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2277599	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2304715	0.81[AMR][1000 genomes]
rs2304716	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415206	0.85[AMR][1000 genomes]
rs3784561	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784562	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4287518	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4547288	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4886820	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4886844	0.80[AMR][1000 genomes]
rs4886845	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4886846	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56194867	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183908	0.84[ASN][1000 genomes]
rs734854	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs743580	0.89[ASN][1000 genomes]
rs752004	0.88[ASN][1000 genomes]
rs8027327	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8027447	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8028557	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038991	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039276	0.81[AMR][1000 genomes]
rs8039404	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8043489	0.80[AMR][1000 genomes]
rs9479	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv518316	chr15:74290993-74331083	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	22 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	chr15:74288200-74301800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:74288200-74303000	Weak transcription	A549	lung
3	chr15:74288200-74303800	Weak transcription	Brain Angular Gyrus	brain
4	chr15:74288200-74331000	Weak transcription	Fetal Heart	heart
5	chr15:74289600-74302400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:74289800-74293000	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr15:74289800-74296000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
8	chr15:74289800-74303200	Weak transcription	Brain Substantia Nigra	brain
9	chr15:74289800-74331000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:74290000-74295200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:74290000-74299000	Weak transcription	Stomach Mucosa	stomach
12	chr15:74290000-74303400	Weak transcription	Fetal Kidney	kidney
13	chr15:74290000-74314800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:74290200-74293000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:74290200-74293400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:74290200-74298200	Weak transcription	HepG2	liver
17	chr15:74290400-74293400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:74290400-74293600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:74290400-74299000	Strong transcription	Fetal Thymus	thymus
20	chr15:74290600-74296800	Strong transcription	Fetal Lung	lung
21	chr15:74290600-74298800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr15:74290800-74293000	Strong transcription	HSMM	muscle
23	chr15:74290800-74294800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:74290800-74301600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr15:74291000-74293000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:74291000-74293000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:74291000-74293000	Strong transcription	Placenta	Placenta
28	chr15:74291000-74293000	Strong transcription	Lung	lung
29	chr15:74291000-74293000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr15:74291000-74293200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:74291000-74293200	Genic enhancers	Colon Smooth Muscle	Colon
32	chr15:74291000-74295200	Weak transcription	Esophagus	oesophagus
33	chr15:74291000-74296400	Weak transcription	Ovary	ovary
34	chr15:74291000-74297000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:74291000-74298200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:74291000-74298200	Weak transcription	Small Intestine	intestine
37	chr15:74291000-74299000	Weak transcription	Gastric	stomach
38	chr15:74291000-74299000	Weak transcription	Right Ventricle	heart
39	chr15:74291000-74299200	Weak transcription	Pancreas	Pancrea
40	chr15:74291000-74299800	Strong transcription	Fetal Muscle Leg	muscle
41	chr15:74291000-74300000	Weak transcription	Aorta	Aorta
42	chr15:74291000-74311200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:74291000-74314800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:74291000-74315000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:74291000-74315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:74291200-74293000	Strong transcription	Thymus	Thymus
47	chr15:74291200-74293600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr15:74291200-74295200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:74291200-74296200	Weak transcription	Brain Germinal Matrix	brain
50	chr15:74291200-74298000	Weak transcription	Spleen	Spleen

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