Variant report

Variant	rs17544225
Chromosome Location	chr7:50688054-50688055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50685467..50688142-chr7:50689785..50691543,2	K562	blood:
2	chr7:50687199..50689206-chr7:50691884..50694076,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10486757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107743	1.00[ASW][hapmap]
rs11575282	0.83[GIH][hapmap]
rs11575286	0.83[GIH][hapmap]
rs11575322	1.00[ASW][hapmap]
rs11575500	1.00[AFR][1000 genomes]
rs11575548	1.00[ASW][hapmap]
rs17634958	1.00[ASW][hapmap]
rs2190499	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190500	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715140	1.00[ASN][1000 genomes]
rs3735271	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3807550	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3807551	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3807553	1.00[ASW][hapmap];0.83[GIH][hapmap]
rs4469405	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4947710	1.00[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55834323	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73125208	0.81[EUR][1000 genomes]
rs73125215	0.81[EUR][1000 genomes]
rs73125225	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73129082	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129084	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129088	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129091	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129096	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73131006	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73131008	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73131013	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73131015	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73131078	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9656664	0.85[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
3	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
8	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
9	chr7:50676800-50688200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:50677000-50696000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:50679000-50688200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:50679200-50691600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:50679400-50688600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:50680200-50689000	Weak transcription	Psoas Muscle	Psoas
15	chr7:50680200-50695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:50681200-50699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:50682200-50692400	Weak transcription	NHDF-Ad	bronchial
18	chr7:50682200-50694200	Weak transcription	Fetal Brain Female	brain
19	chr7:50682200-50699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:50682400-50688800	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:50682400-50690200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:50682400-50695200	Weak transcription	Brain Substantia Nigra	brain
23	chr7:50682400-50695400	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:50682400-50695600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:50682400-50695800	Weak transcription	NHLF	lung
26	chr7:50682600-50688200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:50682600-50688800	Weak transcription	Ovary	ovary
28	chr7:50682600-50693800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:50682600-50695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:50682600-50695400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:50682600-50695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:50682600-50698200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:50682600-50699400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:50682600-50704600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:50682800-50698800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:50683000-50695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:50683000-50700400	Weak transcription	A549	lung
40	chr7:50683400-50693800	Weak transcription	Gastric	stomach
41	chr7:50683400-50695800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:50683400-50699600	Weak transcription	Colonic Mucosa	Colon
43	chr7:50683600-50700400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:50684000-50688400	Strong transcription	K562	blood
45	chr7:50684000-50695400	Weak transcription	HepG2	liver
46	chr7:50684200-50698400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:50684400-50693800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:50684600-50693800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:50684600-50695400	Weak transcription	HSMM	muscle
50	chr7:50684600-50695800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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