Variant report

Variant	rs10498530
Chromosome Location	chr14:70157548-70157549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70129166..70132900-chr14:70155782..70158446,3	K562	blood:
2	chr14:70078153..70079815-chr14:70156064..70158184,2	MCF-7	breast:
3	chr14:70130032..70132900-chr14:70156054..70158446,2	K562	blood:
4	chr14:70149467..70151102-chr14:70156172..70158882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10138481	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11846784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147464	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275825	0.82[EUR][1000 genomes]
rs2184599	0.84[MEX][hapmap];0.86[EUR][1000 genomes]
rs3784142	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902749	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56399658	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56675062	0.83[ASN][1000 genomes]
rs58697041	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67737953	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723899	0.86[EUR][1000 genomes]
rs72723901	0.86[EUR][1000 genomes]
rs762049	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs867900	0.86[EUR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10498530	RAB15	cis	parietal	SCAN
rs10498530	MAP3K9	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70150200-70161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:70150800-70159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70151600-70157800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:70152200-70159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:70152400-70159600	Weak transcription	Aorta	Aorta
6	chr14:70152400-70159800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:70152600-70159400	Weak transcription	Colonic Mucosa	Colon
8	chr14:70152600-70159800	Weak transcription	NHLF	lung
9	chr14:70152800-70158000	Weak transcription	Gastric	stomach
10	chr14:70152800-70158800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:70152800-70158800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:70152800-70159400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:70152800-70159600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:70152800-70159600	Weak transcription	Pancreas	Pancrea
15	chr14:70153000-70158800	Weak transcription	Liver	Liver
16	chr14:70153000-70158800	Weak transcription	Fetal Intestine Large	intestine
17	chr14:70153000-70158800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:70153200-70159400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:70153400-70157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:70153400-70158800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:70153400-70159200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:70153400-70159400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:70153400-70159400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:70153400-70159600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:70153600-70158400	Weak transcription	Small Intestine	intestine
26	chr14:70153600-70159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:70153600-70160400	Weak transcription	NHEK	skin
28	chr14:70153800-70160600	Weak transcription	HMEC	breast
29	chr14:70154800-70157800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:70155000-70158200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:70155000-70158400	Strong transcription	Primary B cells from cord blood	blood
32	chr14:70155200-70158000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:70155200-70158200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr14:70155200-70158800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:70155200-70159200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:70155200-70160400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:70155200-70161400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:70155200-70162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:70155400-70158000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:70155400-70158200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:70155400-70158800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:70155400-70158800	Weak transcription	K562	blood
43	chr14:70155400-70159200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:70155400-70159600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:70155400-70159600	Weak transcription	Fetal Lung	lung
46	chr14:70155400-70160400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:70155600-70157800	Weak transcription	Psoas Muscle	Psoas
48	chr14:70155600-70158000	Weak transcription	Right Ventricle	heart
49	chr14:70155600-70158400	Strong transcription	Thymus	Thymus
50	chr14:70155600-70159000	Weak transcription	Fetal Brain Male	brain

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