Variant report

Variant	rs2237469
Chromosome Location	chr7:50735005-50735006
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	chr7:50732851..50735812-chr7:50737426..50740683,4	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1004402	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1019002	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs10216232	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs1468449	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1548609	0.92[CEU][hapmap]
rs2011899	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2108350	0.92[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs2190497	0.90[JPT][hapmap]
rs2190501	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2190503	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237481	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237488	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329492	0.88[EUR][1000 genomes]
rs2529400	0.92[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529404	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529407	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529409	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715102	0.92[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715105	0.92[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715110	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715117	0.90[JPT][hapmap]
rs2715118	0.92[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715125	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715134	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947432	0.92[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs4947444	0.91[CEU][hapmap];0.83[TSI][hapmap]
rs4947446	0.92[CEU][hapmap];0.83[TSI][hapmap]
rs4947804	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4947835	0.80[EUR][1000 genomes]
rs4947836	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs4947837	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs4947866	0.90[CEU][hapmap];0.81[TSI][hapmap]
rs6593140	0.92[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs6593142	0.92[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs6945302	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs6973119	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs6978627	0.80[EUR][1000 genomes]
rs757775	0.92[CEU][hapmap];0.83[TSI][hapmap]
rs886821	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962508	0.92[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs977791	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs990358	0.92[CEU][hapmap];0.83[TSI][hapmap]

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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:50715600-50740600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:50716600-50740200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:50720600-50739400	Enhancers	Right Atrium	heart
8	chr7:50722000-50737600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:50723600-50735200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:50724200-50742800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:50725400-50737600	Enhancers	Psoas Muscle	Psoas
12	chr7:50726000-50741000	Weak transcription	Fetal Brain Female	brain
13	chr7:50727800-50737400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:50728400-50737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:50728800-50735400	Weak transcription	Colonic Mucosa	Colon
16	chr7:50729200-50737600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:50729800-50736000	Enhancers	Brain Hippocampus Middle	brain
18	chr7:50729800-50741600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:50730000-50736600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:50730000-50737200	Enhancers	Left Ventricle	heart
21	chr7:50730200-50744000	Weak transcription	Small Intestine	intestine
22	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:50730400-50738600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:50731000-50741400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:50731200-50735400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:50731400-50735200	Weak transcription	Placenta	Placenta
27	chr7:50731400-50737600	Weak transcription	Thymus	Thymus
28	chr7:50731400-50743200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:50731600-50735400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:50731600-50735600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:50731800-50735800	Enhancers	HUVEC	blood vessel
32	chr7:50731800-50736600	Enhancers	NHDF-Ad	bronchial
33	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:50732000-50737200	Enhancers	Liver	Liver
35	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:50733000-50735200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:50733200-50735200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:50733200-50736200	Enhancers	Aorta	Aorta
39	chr7:50733200-50743600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:50733400-50736600	Enhancers	Ovary	ovary
41	chr7:50733400-50737000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:50733600-50735200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:50733600-50735200	Enhancers	Colon Smooth Muscle	Colon
44	chr7:50733600-50738400	Strong transcription	A549	lung
45	chr7:50733600-50741800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:50733800-50736000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr7:50733800-50742600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:50734000-50735200	Weak transcription	NHLF	lung
49	chr7:50734000-50735200	Enhancers	Osteobl	bone
50	chr7:50734000-50737200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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