Variant report

Variant	rs10486757
Chromosome Location	chr7:50693858-50693859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50687199..50689206-chr7:50691884..50694076,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1107743	1.00[ASW][hapmap]
rs11575322	1.00[ASW][hapmap]
rs11575500	1.00[AFR][1000 genomes]
rs11575548	1.00[ASW][hapmap]
rs17544225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17634958	1.00[ASW][hapmap]
rs2190499	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190500	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715140	1.00[ASN][1000 genomes]
rs3735271	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3807550	1.00[ASW][hapmap];0.92[CHD][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3807551	1.00[ASW][hapmap];0.92[CHD][hapmap];1.00[LWK][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3807553	1.00[ASW][hapmap]
rs4469405	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4947406	0.84[CHD][hapmap]
rs4947710	0.92[CHD][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55834323	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73125225	1.00[AFR][1000 genomes]
rs73129082	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73129084	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73129088	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73129091	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73129096	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73131006	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73131008	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73131013	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73131015	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73131078	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9656664	0.92[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1021753	chr7:50671350-50694457	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020791	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv606906	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
5	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
6	chr7:50677000-50696000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:50680200-50695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:50681200-50699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:50682200-50694200	Weak transcription	Fetal Brain Female	brain
10	chr7:50682200-50699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:50682400-50695200	Weak transcription	Brain Substantia Nigra	brain
12	chr7:50682400-50695400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:50682400-50695600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:50682400-50695800	Weak transcription	NHLF	lung
15	chr7:50682600-50695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:50682600-50695400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:50682600-50695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:50682600-50698200	Weak transcription	Brain Angular Gyrus	brain
19	chr7:50682600-50699400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:50682600-50704600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:50682800-50698800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:50683000-50695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:50683000-50700400	Weak transcription	A549	lung
26	chr7:50683400-50695800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:50683400-50699600	Weak transcription	Colonic Mucosa	Colon
28	chr7:50683600-50700400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:50684000-50695400	Weak transcription	HepG2	liver
30	chr7:50684200-50698400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:50684600-50695400	Weak transcription	HSMM	muscle
32	chr7:50684600-50695800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:50684800-50695800	Weak transcription	Fetal Intestine Large	intestine
34	chr7:50685200-50700800	Weak transcription	Osteobl	bone
35	chr7:50685800-50695800	Weak transcription	Fetal Lung	lung
36	chr7:50686200-50694000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:50686200-50694200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:50686200-50694200	Weak transcription	Primary T cells from cord blood	blood
39	chr7:50686600-50695400	Weak transcription	Placenta	Placenta
40	chr7:50686800-50694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:50687400-50700600	Enhancers	Fetal Heart	heart
42	chr7:50687800-50694200	Weak transcription	HUVEC	blood vessel
43	chr7:50687800-50697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:50688400-50700600	Weak transcription	K562	blood
45	chr7:50689000-50699000	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:50689200-50697200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:50689200-50700400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:50689800-50694200	Weak transcription	Psoas Muscle	Psoas
49	chr7:50690800-50694600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:50690800-50694800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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