Variant report

Variant	rs2237481
Chromosome Location	chr7:50748338-50748339
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	chr7:50747289..50748950-chr7:50751098..50752627,2	K562	blood:
2	chr7:50746261..50749281-chr7:50749955..50753325,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1004402	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1019002	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs10216232	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1024532	0.83[EUR][1000 genomes]
rs13236710	1.00[YRI][hapmap]
rs1468449	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1548609	0.92[CEU][hapmap]
rs2011899	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2108350	0.92[CEU][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2190497	0.90[JPT][hapmap]
rs2190501	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2190503	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237469	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237488	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329492	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2529400	0.92[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529404	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529407	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529409	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715102	0.92[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715105	0.92[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715110	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715117	0.90[JPT][hapmap]
rs2715118	0.92[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715125	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715128	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715134	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800999	0.83[EUR][1000 genomes]
rs4947432	0.92[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4947444	0.91[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs4947446	0.92[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs4947804	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4947835	0.84[EUR][1000 genomes]
rs4947836	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs4947837	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs4947842	0.81[EUR][1000 genomes]
rs4947866	0.91[CEU][hapmap];0.86[TSI][hapmap]
rs6593140	0.92[CEU][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6593142	0.92[CEU][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6593171	0.83[EUR][1000 genomes]
rs6945302	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs6973119	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6978627	0.84[EUR][1000 genomes]
rs757775	0.92[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs886821	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962508	0.92[CEU][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs977791	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs990358	0.92[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][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	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:50734200-50748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:50736600-50755200	Weak transcription	NHDF-Ad	bronchial
8	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:50742000-50753000	Weak transcription	Osteobl	bone
10	chr7:50742200-50749400	Weak transcription	Placenta	Placenta
11	chr7:50742200-50749400	Enhancers	Rectal Smooth Muscle	rectum
12	chr7:50742200-50749800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:50742200-50758200	Weak transcription	Brain Germinal Matrix	brain
14	chr7:50742200-50765200	Weak transcription	NHLF	lung
15	chr7:50742400-50753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:50742400-50755000	Weak transcription	Esophagus	oesophagus
17	chr7:50742400-50755000	Weak transcription	NH-A	brain
18	chr7:50742400-50755200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:50742600-50748800	Weak transcription	Fetal Lung	lung
20	chr7:50742600-50749000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:50742600-50749000	Weak transcription	HUVEC	blood vessel
22	chr7:50742600-50749200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:50742600-50749400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:50742600-50757000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:50742600-50762200	Weak transcription	Hela-S3	cervix
26	chr7:50742600-50763000	Weak transcription	HSMM	muscle
27	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
28	chr7:50742800-50748800	Weak transcription	Fetal Stomach	stomach
29	chr7:50742800-50749400	Weak transcription	Spleen	Spleen
30	chr7:50742800-50756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:50742800-50757600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:50743000-50750200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:50743000-50750200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:50743000-50755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:50743000-50755200	Weak transcription	K562	blood
36	chr7:50743000-50756400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:50743200-50748800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:50743200-50749000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:50743200-50754600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:50743400-50753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:50743400-50754200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:50743800-50754600	Weak transcription	Fetal Brain Female	brain
43	chr7:50744400-50753800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:50745000-50754600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:50745200-50748800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:50745200-50749400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:50745400-50752000	Enhancers	Liver	Liver
48	chr7:50745600-50748400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:50745600-50748600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:50745600-50748800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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