Variant report

Variant	rs7749370
Chromosome Location	chr6:56325517-56325518
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11756977	0.90[CHB][hapmap]
rs1547625	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17825773	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2894837	0.91[CEU][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4143827	0.84[ASN][1000 genomes]
rs4236139	0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs4236140	0.90[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs4329120	0.86[ASN][1000 genomes]
rs4346846	0.90[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4454141	0.90[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs4472350	0.82[ASN][1000 genomes]
rs4473850	0.82[ASN][1000 genomes]
rs4715626	0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs4715627	0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs4715628	0.90[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4715629	0.90[CHB][hapmap]
rs4715631	0.90[CHB][hapmap]
rs58705220	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6904202	0.89[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6906792	0.90[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs6911307	0.81[EUR][1000 genomes]
rs6914184	0.82[ASN][1000 genomes]
rs6919608	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs6922770	0.90[CHB][hapmap]
rs6939305	0.90[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs7743011	0.87[ASN][1000 genomes]
rs7755361	0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs7759875	0.90[CHB][hapmap]
rs7760640	0.90[CHB][hapmap]
rs9296849	0.87[ASN][1000 genomes]
rs9349823	0.82[JPT][hapmap]
rs9349826	0.86[ASN][1000 genomes]
rs9396210	0.81[EUR][1000 genomes]
rs9396220	0.90[CHB][hapmap]
rs9464388	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9475713	0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs9475714	0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56308800-56373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:56315000-56347200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:56315000-56349800	Strong transcription	HSMM	muscle
4	chr6:56315600-56371000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:56315800-56329200	Weak transcription	Small Intestine	intestine
6	chr6:56316800-56337600	Weak transcription	Hela-S3	cervix
7	chr6:56317200-56342800	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr6:56317800-56331200	Strong transcription	HSMMtube	muscle
9	chr6:56318000-56340600	Strong transcription	Fetal Intestine Large	intestine
10	chr6:56318600-56331000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:56318800-56325800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:56318800-56332000	Strong transcription	Fetal Lung	lung
13	chr6:56319000-56325800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:56319000-56326000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:56319000-56331200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:56319000-56348200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:56319200-56331200	Strong transcription	Osteobl	bone
18	chr6:56319200-56340400	Strong transcription	NH-A	brain
19	chr6:56319200-56348400	Strong transcription	NHDF-Ad	bronchial
20	chr6:56319400-56329200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:56319400-56343600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:56319400-56344200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:56320000-56338800	Strong transcription	Liver	Liver
24	chr6:56320800-56325600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:56320800-56325800	Strong transcription	Adipose Nuclei	Adipose
26	chr6:56320800-56328600	Strong transcription	Brain Substantia Nigra	brain
27	chr6:56320800-56331200	Strong transcription	Brain Anterior Caudate	brain
28	chr6:56321000-56325600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:56321000-56325600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr6:56321000-56325600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr6:56321000-56331000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr6:56321000-56331200	Strong transcription	Fetal Muscle Leg	muscle
33	chr6:56321000-56331200	Strong transcription	Left Ventricle	heart
34	chr6:56321000-56331800	Strong transcription	Brain Hippocampus Middle	brain
35	chr6:56321000-56343400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:56321200-56343800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:56321600-56325600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:56321800-56325600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:56321800-56331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:56322000-56325600	Strong transcription	Brain Germinal Matrix	brain
41	chr6:56322000-56326600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:56322000-56330000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr6:56322000-56330800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr6:56322000-56331600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:56322000-56332400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:56322200-56325800	Strong transcription	NHLF	lung
47	chr6:56322200-56331400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr6:56322200-56332200	Strong transcription	GM12878-XiMat	blood
49	chr6:56322200-56339000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:56322200-56349200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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