Variant report

Variant	rs7743283
Chromosome Location	chr6:15442743-15442744
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15246180..15248927-chr6:15440095..15442799,2	K562	blood:
2	chr6:15433530..15436747-chr6:15439990..15443191,3	K562	blood:
3	chr6:15417100..15419181-chr6:15441212..15443490,2	K562	blood:
4	chr6:15432414..15437643-chr6:15439715..15443191,6	K562	blood:

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction
ENSG00000235488	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10484354	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11961516	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11961748	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11961827	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11963285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11965505	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11969359	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16876316	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16876327	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16876361	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35438327	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35801290	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60535196	1.00[AFR][1000 genomes]
rs6905116	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73367315	1.00[AMR][1000 genomes]
rs7748631	0.85[YRI][hapmap]
rs7757154	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7767966	0.87[YRI][hapmap]
rs7769123	1.00[AFR][1000 genomes];1.00[AMR][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	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS 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	29 gene(s)	inside rSNPs	diseases
2	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15417000-15452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:15425600-15445400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:15427000-15450800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:15429200-15446000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:15433000-15443200	Weak transcription	Hela-S3	cervix
6	chr6:15434400-15444400	Weak transcription	HSMMtube	muscle
7	chr6:15435000-15448000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:15435800-15443400	Weak transcription	HepG2	liver
9	chr6:15435800-15445400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:15435800-15446000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:15435800-15453600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:15435800-15487600	Weak transcription	Colonic Mucosa	Colon
13	chr6:15436000-15447000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:15437000-15444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:15437400-15444400	Weak transcription	Lung	lung
16	chr6:15437600-15444200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:15437800-15444400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:15438200-15444400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:15438600-15444400	Weak transcription	Spleen	Spleen
20	chr6:15438800-15443600	Enhancers	K562	blood
21	chr6:15439000-15443200	Enhancers	Brain Hippocampus Middle	brain
22	chr6:15439000-15458000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:15439200-15444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:15439200-15444600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:15439200-15450200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:15439400-15444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:15439400-15444800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:15439400-15446000	Enhancers	Adipose Nuclei	Adipose
29	chr6:15439600-15444200	Enhancers	NHDF-Ad	bronchial
30	chr6:15439600-15445800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:15439600-15448200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:15439800-15443400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:15440000-15443200	Weak transcription	HUVEC	blood vessel
34	chr6:15440000-15444400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:15440000-15444400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:15440000-15445800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr6:15440000-15449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:15440000-15468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:15440200-15442800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:15440200-15443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:15440200-15444600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:15440400-15444000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:15440400-15444000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:15440600-15442800	Weak transcription	NH-A	brain
45	chr6:15440600-15443600	Weak transcription	Stomach Mucosa	stomach
46	chr6:15440600-15444600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:15440600-15444600	Weak transcription	Pancreas	Pancrea
48	chr6:15440600-15445800	Weak transcription	Esophagus	oesophagus
49	chr6:15440600-15446400	Weak transcription	Gastric	stomach
50	chr6:15440600-15448200	Weak transcription	Thymus	Thymus

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