Variant report

Variant	rs7742713
Chromosome Location	chr6:13371442-13371443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13371174..13372780-chr6:13384970..13387341,2	K562	blood:
2	chr6:13370139..13371642-chr6:13395702..13397966,2	K562	blood:
3	chr6:13366611..13368795-chr6:13370158..13372388,2	K562	blood:
4	chr6:13370709..13372780-chr6:13384931..13387341,2	K562	blood:
5	chr6:13370949..13373369-chr6:13573069..13576049,2	K562	blood:
6	chr6:13370869..13372385-chr6:13372933..13375526,2	K562	blood:

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10948641	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11754614	1.00[EUR][1000 genomes]
rs11755431	1.00[EUR][1000 genomes]
rs11756770	1.00[EUR][1000 genomes]
rs11756942	1.00[EUR][1000 genomes]
rs11757262	1.00[EUR][1000 genomes]
rs11758235	1.00[EUR][1000 genomes]
rs11759443	1.00[EUR][1000 genomes]
rs16873780	1.00[EUR][1000 genomes]
rs2439559	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2496171	1.00[EUR][1000 genomes]
rs28495821	1.00[EUR][1000 genomes]
rs35114287	1.00[EUR][1000 genomes]
rs4452644	1.00[EUR][1000 genomes]
rs476904	0.80[YRI][hapmap]
rs517803	0.96[YRI][hapmap]
rs526661	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs55651307	1.00[ASN][1000 genomes]
rs6911459	0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6912427	1.00[EUR][1000 genomes]
rs6920849	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925659	1.00[EUR][1000 genomes]
rs73359121	1.00[EUR][1000 genomes]
rs754439	0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs878560	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9463696	1.00[EUR][1000 genomes]
rs9474025	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9474036	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474040	1.00[EUR][1000 genomes]
rs9474061	1.00[EUR][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13355600-13383400	Weak transcription	A549	lung
2	chr6:13356200-13371800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:13356200-13372000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:13356200-13373600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:13356200-13378200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:13358000-13371800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:13361600-13378200	Weak transcription	Fetal Thymus	thymus
8	chr6:13365000-13377800	Weak transcription	Primary B cells from cord blood	blood
9	chr6:13365400-13379800	Weak transcription	Primary T cells from cord blood	blood
10	chr6:13365600-13378000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:13365800-13373800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:13365800-13373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:13365800-13373800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:13365800-13377600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:13365800-13378800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:13365800-13378800	Weak transcription	Gastric	stomach
17	chr6:13365800-13379400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:13365800-13379600	Weak transcription	Brain Germinal Matrix	brain
19	chr6:13365800-13380600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:13365800-13385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:13366000-13372200	Weak transcription	Fetal Stomach	stomach
22	chr6:13366000-13372800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:13366000-13374600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:13366000-13378200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:13366000-13378200	Weak transcription	Colonic Mucosa	Colon
26	chr6:13366000-13378600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:13366000-13380600	Weak transcription	Ovary	ovary
28	chr6:13366000-13382800	Weak transcription	Liver	Liver
29	chr6:13366000-13386800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:13366600-13372800	Weak transcription	GM12878-XiMat	blood
31	chr6:13367400-13371800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:13367400-13372200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:13367400-13373000	Enhancers	Brain Anterior Caudate	brain
34	chr6:13367600-13371800	Enhancers	NHEK	skin
35	chr6:13367600-13373000	Enhancers	Brain Cingulate Gyrus	brain
36	chr6:13367600-13374400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr6:13368000-13404600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:13368200-13371600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:13368200-13371600	Weak transcription	Fetal Lung	lung
40	chr6:13368200-13381000	Weak transcription	NH-A	brain
41	chr6:13368400-13373800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:13368400-13375800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:13368400-13386600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:13368600-13371800	Weak transcription	Lung	lung
45	chr6:13368600-13373600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:13368600-13375600	Weak transcription	Esophagus	oesophagus
47	chr6:13368600-13377600	Weak transcription	Aorta	Aorta
48	chr6:13368800-13371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:13368800-13371800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:13368800-13372000	Weak transcription	H1 Cell Line	embryonic stem cell

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