Variant report

Variant	rs2785082
Chromosome Location	chr1:86170061-86170062
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
2	chr1:86167595..86170083-chr1:86172417..86174926,2	MCF-7	breast:
3	chr1:86046116..86050935-chr1:86168336..86177340,12	K562	blood:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction
ENSG00000117174	Chromatin interaction
ENSG00000272691	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10747324	1.00[JPT][hapmap]
rs12410234	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12410754	1.00[JPT][hapmap]
rs12758966	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1481200	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1764287	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1764294	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1764295	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1764296	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1764298	0.83[EUR][1000 genomes]
rs1775985	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1775986	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1775987	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1775992	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1775993	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2014733	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2389973	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2389974	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs313724	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs313725	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs399547	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs425357	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs429040	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4379699	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs444875	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6686719	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7521240	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs821378	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821380	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821387	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821388	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821390	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821400	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821402	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs821403	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821404	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9324152	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9324153	1.00[CEU][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs9661608	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9661951	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9701898	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9793556	0.82[CHB][hapmap];1.00[JPT][hapmap]

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:120 , 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	chr1:86144400-86170400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:86146000-86170600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:86147000-86172600	Weak transcription	Brain Angular Gyrus	brain
20	chr1:86147200-86172000	Weak transcription	Fetal Kidney	kidney
21	chr1:86147200-86172600	Weak transcription	Psoas Muscle	Psoas
22	chr1:86147200-86172800	Weak transcription	Aorta	Aorta
23	chr1:86155400-86171800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:86157800-86172600	Weak transcription	Fetal Intestine Small	intestine
25	chr1:86157800-86173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:86158000-86170600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:86158000-86173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:86162000-86171800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:86162400-86171600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:86163000-86172000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:86163200-86171400	Strong transcription	Primary B cells from cord blood	blood
32	chr1:86163200-86172000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:86163200-86172200	Strong transcription	HSMM	muscle
34	chr1:86163400-86171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:86163600-86171200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr1:86163600-86172000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:86163800-86171600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:86163800-86171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:86163800-86171800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:86163800-86172000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:86164000-86170400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:86164200-86171600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:86164200-86172000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:86164200-86172000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:86164600-86172000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:86164800-86172000	Strong transcription	Osteobl	bone
47	chr1:86165000-86170800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:86165000-86171400	Strong transcription	HUVEC	blood vessel
49	chr1:86165000-86171800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:86165400-86171400	Strong transcription	HMEC	breast

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