Variant report

Variant	rs4744207
Chromosome Location	chr9:96027813-96027814
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:96027769-96027833	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:96027787-96028020	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96021057..96023723-chr9:96026447..96029184,3	K562	blood:
2	chr9:96020792..96023723-chr9:96026447..96028698,2	K562	blood:

Variant related genes	Relation type
WNK2	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10761201	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10761204	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761209	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10821094	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10821096	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10821097	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821099	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821100	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10821106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10821107	0.96[CEU][hapmap]
rs10992689	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992697	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992704	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1110335	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12684394	0.85[EUR][1000 genomes]
rs1463544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2086103	0.85[EUR][1000 genomes]
rs3763634	0.86[EUR][1000 genomes]
rs3793546	0.84[EUR][1000 genomes]
rs41278286	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743905	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744203	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4744208	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744215	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893583	chr9:95996573-96091688	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv893584	chr9:96002983-96116937	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95995600-96030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:96005400-96033800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:96006200-96043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:96008000-96030200	Strong transcription	Fetal Intestine Small	intestine
5	chr9:96008000-96030400	Strong transcription	Fetal Intestine Large	intestine
6	chr9:96011200-96030600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:96011200-96032800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:96011200-96033400	Weak transcription	A549	lung
9	chr9:96012800-96032600	Weak transcription	Fetal Brain Male	brain
10	chr9:96013000-96031400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:96014000-96033800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr9:96014400-96032800	Strong transcription	Fetal Brain Female	brain
13	chr9:96017400-96033200	Weak transcription	Brain Substantia Nigra	brain
14	chr9:96017800-96030200	Weak transcription	Brain Angular Gyrus	brain
15	chr9:96018400-96033200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:96020000-96030000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:96020600-96029200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:96022600-96030800	Enhancers	Fetal Thymus	thymus
19	chr9:96024200-96028200	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr9:96024200-96033600	Strong transcription	Fetal Stomach	stomach
21	chr9:96024400-96031600	Strong transcription	HepG2	liver
22	chr9:96025400-96028400	Weak transcription	Thymus	Thymus
23	chr9:96025400-96035600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:96025600-96041200	Weak transcription	Psoas Muscle	Psoas
25	chr9:96025800-96028000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr9:96025800-96028600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr9:96025800-96029200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr9:96025800-96030400	Weak transcription	Stomach Mucosa	stomach
29	chr9:96026000-96029200	Weak transcription	Dnd41	blood
30	chr9:96026200-96028000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:96026200-96028400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:96026200-96033200	Strong transcription	Brain Germinal Matrix	brain
33	chr9:96026400-96028200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:96026400-96028400	Strong transcription	Brain Anterior Caudate	brain
35	chr9:96026400-96031400	Strong transcription	Rectal Smooth Muscle	rectum
36	chr9:96026600-96028800	Strong transcription	Colonic Mucosa	Colon
37	chr9:96026800-96028600	Enhancers	Fetal Heart	heart
38	chr9:96026800-96029000	Strong transcription	Pancreas	Pancrea
39	chr9:96027000-96036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr9:96027200-96028000	Weak transcription	Right Ventricle	heart
41	chr9:96027200-96028000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr9:96027200-96029800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr9:96027200-96030200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr9:96027200-96030200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:96027200-96035200	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:96027200-96051200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:96027200-96056000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:96027200-96061000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr9:96027400-96028000	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:96027400-96028200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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