Variant report

Variant	rs6587515
Chromosome Location	chr1:150608888-150608889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150592222..150593856-chr1:150607408..150609427,2	K562	blood:
2	chr1:150602963..150605851-chr1:150608537..150610642,4	K562	blood:
3	chr1:150601574..150603755-chr1:150607375..150611459,3	MCF-7	breast:
4	chr1:150594170..150596562-chr1:150607857..150610063,2	MCF-7	breast:
5	chr1:150590724..150593722-chr1:150607408..150609980,2	K562	blood:
6	chr1:150606933..150609483-chr1:150622223..150624505,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTSL4-7	chr1:150602100-150609632	NONHSAT006322

No data

Variant related genes	Relation type
ENSG00000143420	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1053701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11204665	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11204674	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11204689	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11204700	0.87[EUR][1000 genomes]
rs11204714	0.80[EUR][1000 genomes]
rs11204715	0.80[EUR][1000 genomes]
rs11204727	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11576175	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11585460	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12031458	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12032445	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12034302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12036914	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12038403	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12042580	0.81[ASN][1000 genomes]
rs12045807	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16840074	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1932864	0.81[EUR][1000 genomes]
rs28744536	0.81[ASN][1000 genomes]
rs3738483	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3754207	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4379678	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4970970	0.93[EUR][1000 genomes]
rs55890313	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60060012	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61817598	0.83[EUR][1000 genomes]
rs61817599	0.81[EUR][1000 genomes]
rs61820166	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61820168	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61820170	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6587517	0.93[EUR][1000 genomes]
rs6672667	0.93[CHB][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7517	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7520511	0.85[EUR][1000 genomes]
rs7520516	0.85[EUR][1000 genomes]
rs7535975	0.80[EUR][1000 genomes]
rs7543465	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150603000-150619000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:150603000-150619600	Weak transcription	Small Intestine	intestine
3	chr1:150603200-150616600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:150603200-150617400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:150603200-150618600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:150603200-150619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:150603200-150619600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:150603200-150619600	Weak transcription	Fetal Stomach	stomach
9	chr1:150603200-150619800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:150603200-150620000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:150603200-150620000	Weak transcription	Gastric	stomach
12	chr1:150603200-150620000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:150603200-150620600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:150603200-150620600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:150603200-150661200	Weak transcription	Brain Substantia Nigra	brain
16	chr1:150603400-150616800	Weak transcription	Liver	Liver
17	chr1:150603400-150618000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:150603400-150618200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:150603400-150618200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:150603400-150618200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:150603400-150618800	Weak transcription	Osteobl	bone
22	chr1:150603400-150619000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:150603400-150620000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:150603400-150620400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:150603400-150620600	Weak transcription	Right Ventricle	heart
26	chr1:150603400-150620600	Weak transcription	A549	lung
27	chr1:150603400-150620800	Weak transcription	Spleen	Spleen
28	chr1:150603400-150621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:150603400-150621600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:150603400-150668200	Weak transcription	Brain Germinal Matrix	brain
31	chr1:150603600-150609000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:150603600-150615800	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:150603600-150618200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:150603600-150619800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:150603800-150619400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:150604000-150618000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:150604200-150619600	Weak transcription	Left Ventricle	heart
38	chr1:150604200-150620400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:150607000-150609400	Enhancers	K562	blood
40	chr1:150607400-150620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:150607600-150609000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:150607800-150609400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:150608000-150619600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:150608200-150609800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:150608200-150613200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:150608200-150618200	Weak transcription	Primary B cells from cord blood	blood
47	chr1:150608200-150618400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:150608200-150619200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:150608400-150609000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:150608400-150609200	Enhancers	HUES6 Cell Line	embryonic stem cell

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