Variant report

Variant	rs10518350
Chromosome Location	chr1:86167681-86167682
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86167595..86170083-chr1:86172417..86174926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117174	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1047892	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1047895	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11161643	0.86[JPT][hapmap]
rs11161645	0.86[JPT][hapmap]
rs1116746	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12037785	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12046489	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap]
rs12128916	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs1764285	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1764291	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs1764292	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs1764299	0.84[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1775988	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2389970	0.86[JPT][hapmap]
rs2785081	0.89[JPT][hapmap]
rs2995537	0.84[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs373787	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs3767162	0.81[ASN][1000 genomes]
rs414618	0.86[JPT][hapmap]
rs418979	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs4949910	0.91[AFR][1000 genomes]
rs6657079	1.00[YRI][hapmap]
rs6699497	0.83[ASN][1000 genomes]
rs7532758	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs821379	0.81[ASN][1000 genomes]
rs821386	0.87[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs821389	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs821393	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs821395	0.88[ASN][1000 genomes]
rs9324154	0.81[ASN][1000 genomes]
rs952837	0.83[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs9700177	0.81[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
2	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:86103600-86172600	Weak transcription	Gastric	stomach
4	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
5	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
6	chr1:86119800-86171800	Weak transcription	Fetal Brain Male	brain
7	chr1:86134200-86172600	Weak transcription	Right Ventricle	heart
8	chr1:86134600-86172400	Weak transcription	Stomach Mucosa	stomach
9	chr1:86135200-86171200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:86135600-86172000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:86141600-86171800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:86142400-86170600	Weak transcription	Brain Germinal Matrix	brain
13	chr1:86142600-86170800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:86142600-86171000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:86142600-86172600	Weak transcription	Thymus	Thymus
16	chr1:86142600-86172600	Weak transcription	Spleen	Spleen
17	chr1:86144200-86168200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:86144400-86170400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:86146000-86170600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:86147000-86172600	Weak transcription	Brain Angular Gyrus	brain
21	chr1:86147200-86169400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:86147200-86172000	Weak transcription	Fetal Kidney	kidney
23	chr1:86147200-86172600	Weak transcription	Psoas Muscle	Psoas
24	chr1:86147200-86172800	Weak transcription	Aorta	Aorta
25	chr1:86155400-86171800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:86157800-86172600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:86157800-86173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:86158000-86170600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:86158000-86173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:86158400-86169600	Weak transcription	Hela-S3	cervix
31	chr1:86162000-86171800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:86162400-86171600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:86162800-86169600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:86163000-86172000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:86163200-86169200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:86163200-86171400	Strong transcription	Primary B cells from cord blood	blood
37	chr1:86163200-86172000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:86163200-86172200	Strong transcription	HSMM	muscle
39	chr1:86163400-86168400	Strong transcription	Dnd41	blood
40	chr1:86163400-86169400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:86163400-86169600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:86163400-86171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:86163600-86171200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:86163600-86172000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:86163800-86169000	Strong transcription	GM12878-XiMat	blood
46	chr1:86163800-86171600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:86163800-86171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:86163800-86171800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:86163800-86172000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:86164000-86170400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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