Variant report

Variant	rs975938
Chromosome Location	chr13:76125192-76125193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr13:76125136-76125414	K562	blood:	n/a	n/a
2	SPI1	chr13:76124900-76125337	HL-60	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:76124018..76125732-chr13:76125795..76127481,2	MCF-7	breast:
2	chr13:76124376..76126025-chr13:76132730..76134454,2	K562	blood:
3	chr13:76124076..76125593-chr13:76162284..76165016,2	K562	blood:
4	chr13:76111452..76114150-chr13:76122087..76125338,6	MCF-7	breast:
5	chr13:76055434..76058277-chr13:76123047..76126766,3	K562	blood:
6	chr13:76109717..76113590-chr13:76122029..76126081,5	MCF-7	breast:
7	chr13:76110734..76112526-chr13:76124795..76127675,2	K562	blood:

No data

Variant related genes	Relation type
COMMD6	TF binding region
ENSG00000136111	Chromatin interaction
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11840945	0.86[ASN][1000 genomes]
rs12866456	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12872149	0.86[ASN][1000 genomes]
rs1323696	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1535726	0.84[ASN][1000 genomes]
rs2031235	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2274049	0.84[ASN][1000 genomes]
rs2281762	0.99[ASN][1000 genomes]
rs2328961	0.87[ASN][1000 genomes]
rs2328962	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3812844	0.99[ASN][1000 genomes]
rs3812845	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812846	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4884008	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4885312	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4885313	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4885314	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4885319	0.88[ASN][1000 genomes]
rs4885321	0.88[ASN][1000 genomes]
rs4885328	0.84[ASN][1000 genomes]
rs4885330	0.83[ASN][1000 genomes]
rs4885331	0.83[ASN][1000 genomes]
rs4885332	0.83[ASN][1000 genomes]
rs4885333	0.83[ASN][1000 genomes]
rs61960594	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6562912	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6562920	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7139862	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7317893	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7319441	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326807	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331205	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7358977	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7491365	0.80[ASN][1000 genomes]
rs7982534	1.00[ASN][1000 genomes]
rs7982613	0.87[ASN][1000 genomes]
rs7984443	0.87[ASN][1000 genomes]
rs7995889	0.94[ASN][1000 genomes]
rs8000062	0.87[ASN][1000 genomes]
rs8192738	0.99[ASN][1000 genomes]
rs8192741	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8192746	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8192747	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8192748	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8192751	0.91[ASN][1000 genomes]
rs9318357	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9318358	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9530450	0.83[ASN][1000 genomes]
rs9530453	0.80[ASN][1000 genomes]
rs9530456	0.81[ASN][1000 genomes]
rs9543980	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9543994	0.87[ASN][1000 genomes]
rs9543996	0.86[ASN][1000 genomes]
rs9543997	0.86[ASN][1000 genomes]
rs9543999	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9544008	0.84[ASN][1000 genomes]
rs9565175	0.91[ASN][1000 genomes]
rs9573584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9573590	0.86[ASN][1000 genomes]
rs9635000	0.86[ASN][1000 genomes]
rs966058	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs966059	0.80[AFR][1000 genomes]
rs972542	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv900566	chr13:76123678-76153748	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900567	chr13:76123678-76156136	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
8	nsv900568	chr13:76123678-76159104	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv900569	chr13:76123678-76167433	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv900570	chr13:76123678-76176680	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76123000-76125200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:76123000-76125600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr13:76123200-76125400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:76123400-76125200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr13:76123400-76125400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr13:76123400-76125600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr13:76123400-76125600	Active TSS	K562	blood
8	chr13:76123400-76125800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr13:76123600-76125200	Active TSS	HMEC	breast
10	chr13:76124000-76125200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr13:76124000-76125200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:76124200-76125200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:76124200-76125200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr13:76124200-76125400	Flanking Active TSS	Fetal Brain Female	brain
15	chr13:76124400-76125200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr13:76124400-76125200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr13:76124400-76125200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr13:76124400-76125400	Flanking Active TSS	Dnd41	blood
19	chr13:76124600-76125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:76124600-76125200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr13:76124600-76125200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:76124600-76125200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr13:76124600-76125200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:76124600-76125200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr13:76124600-76125200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr13:76124600-76125200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr13:76124600-76125200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr13:76124600-76125200	Flanking Active TSS	GM12878-XiMat	blood
29	chr13:76124600-76125200	Flanking Active TSS	Hela-S3	cervix
30	chr13:76124600-76125200	Flanking Active TSS	NH-A	brain
31	chr13:76124600-76125400	Flanking Active TSS	Osteobl	bone
32	chr13:76124600-76125600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr13:76124600-76183000	Weak transcription	Small Intestine	intestine
34	chr13:76124800-76125200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr13:76124800-76125200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr13:76124800-76125200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:76124800-76125200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:76124800-76125200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:76124800-76125200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr13:76124800-76125200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr13:76124800-76125200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr13:76124800-76125200	Enhancers	Fetal Heart	heart
43	chr13:76124800-76125200	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr13:76124800-76125200	Enhancers	Stomach Mucosa	stomach
45	chr13:76124800-76125200	Flanking Active TSS	NHEK	skin
46	chr13:76124800-76125400	Enhancers	Primary B cells from peripheral blood	blood
47	chr13:76124800-76125400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr13:76124800-76125400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr13:76124800-76125400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:76124800-76125400	Enhancers	Brain Anterior Caudate	brain

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