Variant report

Variant	rs11195376
Chromosome Location	chr10:112680950-112680951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:112680009-112681037	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr10:112677587-112681135	Hela-S3	cervix:	n/a	n/a
3	CHD1	chr10:112679346-112680950	GM12878	blood:	n/a	chr10:112679533-112679543 chr10:112680213-112680223
4	MXI1	chr10:112677678-112681118	IMR90	lung:	n/a	n/a
5	MXI1	chr10:112677202-112681160	SK-N-SH	brain:	n/a	n/a
6	MAZ	chr10:112677765-112681062	IMR90	lung:	n/a	chr10:112679921-112679931

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112675807..112678772-chr10:112678882..112681031,3	MCF-7	breast:
2	chr10:112630838..112635784-chr10:112676837..112681433,10	K562	blood:

Variant related genes	Relation type
BBIP1	TF binding region
ENSG00000150593	Chromatin interaction
ENSG00000203497	Chromatin interaction
ENSG00000214413	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11195368	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195373	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195409	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11592186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11592376	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593462	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593479	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11593592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593866	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11597120	1.00[EUR][1000 genomes]
rs11597460	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11597928	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812232	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11812855	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11813262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813593	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11814418	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11814686	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816033	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11816247	1.00[EUR][1000 genomes]
rs11816269	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11816396	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11818060	1.00[EUR][1000 genomes]
rs11818747	1.00[EUR][1000 genomes]
rs11818761	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11818771	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11818869	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781566	1.00[ASN][1000 genomes]
rs1322997	0.92[EUR][1000 genomes]
rs1327556	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1535559	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128189	1.00[EUR][1000 genomes]
rs1885796	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34104444	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647014	0.95[EUR][1000 genomes]
rs55858908	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237211	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60633872	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60681723	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60877808	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469604	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585018	0.92[EUR][1000 genomes]
rs6585020	0.95[EUR][1000 genomes]
rs7081726	1.00[EUR][1000 genomes]
rs74156303	1.00[ASN][1000 genomes]
rs74156304	0.84[EUR][1000 genomes]
rs74156305	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156307	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156308	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156309	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156310	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156311	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156323	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7923004	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1047865	chr10:112660427-112730573	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112677400-112681000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:112677400-112681200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:112677400-112681200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:112677400-112684000	Active TSS	GM12878-XiMat	blood
5	chr10:112677600-112681000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr10:112677600-112681000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:112677600-112681000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:112677600-112681000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:112677600-112681000	Active TSS	Colonic Mucosa	Colon
10	chr10:112677600-112681000	Active TSS	Fetal Stomach	stomach
11	chr10:112677600-112681000	Active TSS	Fetal Thymus	thymus
12	chr10:112677600-112681000	Active TSS	Right Atrium	heart
13	chr10:112677600-112681000	Active TSS	Right Ventricle	heart
14	chr10:112677600-112681200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr10:112677600-112682000	Active TSS	NHLF	lung
16	chr10:112677800-112681000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr10:112677800-112681000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:112677800-112681000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:112677800-112681000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:112677800-112681000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:112677800-112681000	Active TSS	Fetal Intestine Large	intestine
22	chr10:112677800-112681000	Active TSS	Thymus	Thymus
23	chr10:112677800-112681400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr10:112677800-112681400	Active TSS	A549	lung
25	chr10:112677800-112681600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr10:112677800-112681600	Active TSS	K562	blood
27	chr10:112678000-112681000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr10:112678000-112681000	Active TSS	Colon Smooth Muscle	Colon
29	chr10:112678000-112681000	Active TSS	Stomach Smooth Muscle	stomach
30	chr10:112678000-112681000	Active TSS	HSMM	muscle
31	chr10:112678000-112681000	Active TSS	HSMMtube	muscle
32	chr10:112678000-112681200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr10:112678000-112681200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr10:112678000-112681200	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr10:112678000-112681600	Active TSS	Muscle Satellite Cultured Cells	--
36	chr10:112678000-112681800	Active TSS	NHDF-Ad	bronchial
37	chr10:112678000-112682600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:112678200-112681400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:112680000-112681000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr10:112680000-112681000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr10:112680000-112681200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:112680000-112681200	Active TSS	Fetal Heart	heart
43	chr10:112680000-112681400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr10:112680000-112681400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr10:112680200-112681000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:112680200-112681000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr10:112680200-112681000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr10:112680200-112681000	Flanking Active TSS	Fetal Kidney	kidney
49	chr10:112680200-112681200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:112680200-112684000	Weak transcription	Spleen	Spleen

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