Variant report

Variant	rs10868033
Chromosome Location	chr9:72374460-72374461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72286195..72289118-chr9:72373474..72376010,3	MCF-7	breast:
2	chr9:72287056..72289421-chr9:72373634..72375235,2	MCF-7	breast:
3	chr16:2034212..2034737-chr9:72373838..72374550,2	Hela-S3	cervix:
4	chr9:72371967..72374601-chr9:72378093..72381020,2	K562	blood:
5	chr9:72260891..72262906-chr9:72372522..72374744,2	MCF-7	breast:
6	chr9:72089279..72091764-chr9:72373318..72374835,2	MCF-7	breast:
7	chr9:72373387..72376208-chr9:72873924..72875696,2	K562	blood:

Variant related genes	Relation type
ENSG00000261447	Chromatin interaction
ENSG00000198887	Chromatin interaction
ENSG00000107282	Chromatin interaction
ENSG00000127554	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10780598	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10867952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10867966	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10867987	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868041	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11139997	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11140181	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11140185	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140189	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140204	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140205	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140206	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140208	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11791457	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792104	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12376529	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13287102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13293591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13293770	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1411411	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026795	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56040923	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs918337	1.00[CEU][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];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	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72371800-72375600	Active TSS	Fetal Brain Male	brain
2	chr9:72372200-72375400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:72372400-72375800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:72372600-72375600	Active TSS	Fetal Brain Female	brain
5	chr9:72372800-72375000	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr9:72372800-72375000	Active TSS	Brain Germinal Matrix	brain
7	chr9:72372800-72375600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:72373000-72375200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:72373000-72375400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:72373000-72375400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:72373000-72375600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr9:72373000-72375800	Active TSS	GM12878-XiMat	blood
13	chr9:72373200-72375200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:72373200-72375200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr9:72373200-72375200	Active TSS	HSMM	muscle
16	chr9:72373200-72375200	Active TSS	NHLF	lung
17	chr9:72373200-72375400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:72373200-72375400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:72373200-72375400	Active TSS	Brain Hippocampus Middle	brain
20	chr9:72373200-72375400	Active TSS	HSMMtube	muscle
21	chr9:72373200-72375600	Active TSS	Brain Angular Gyrus	brain
22	chr9:72373200-72375600	Active TSS	Fetal Stomach	stomach
23	chr9:72373200-72375600	Active TSS	Fetal Thymus	thymus
24	chr9:72373200-72375600	Active TSS	Right Ventricle	heart
25	chr9:72373200-72375600	Active TSS	HMEC	breast
26	chr9:72373200-72375600	Active TSS	K562	blood
27	chr9:72373400-72374600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr9:72373400-72375000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:72373400-72375200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr9:72373400-72375200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:72373400-72375400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr9:72373400-72375400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr9:72373400-72375600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:72373400-72375600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:72373600-72374600	Active TSS	Fetal Heart	heart
36	chr9:72373600-72375000	Active TSS	Small Intestine	intestine
37	chr9:72373600-72375000	Active TSS	Thymus	Thymus
38	chr9:72373600-72375200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:72373600-72375200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr9:72373600-72375200	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr9:72373600-72375200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:72373600-72375200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:72373600-72375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:72373600-72375200	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr9:72373600-72375200	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr9:72373600-72375200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr9:72373600-72375200	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr9:72373600-72375200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:72373600-72375200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr9:72373600-72375200	Active TSS	Colonic Mucosa	Colon

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