Variant report

Variant	rs4744205
Chromosome Location	chr9:96018359-96018360
allele	C/T
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	chr9:96017884-96018478	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
WNK2	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10122466	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512233	1.00[CEU][hapmap]
rs1539670	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs16909000	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16909005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16909016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16936752	1.00[CEU][hapmap]
rs1891971	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1891972	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1891973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936403	0.96[EUR][1000 genomes]
rs1970622	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744197	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4744202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55692827	0.97[ASN][1000 genomes]
rs55795421	0.97[ASN][1000 genomes]
rs6479467	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7029968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743431	0.97[ASN][1000 genomes]
rs72743442	0.97[ASN][1000 genomes]
rs72743443	0.97[ASN][1000 genomes]
rs72743444	0.90[ASN][1000 genomes]
rs72743445	0.90[ASN][1000 genomes]
rs7859604	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7859628	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7871272	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.90[ASN][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95995200-96026400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:95995600-96030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:96001800-96018800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:96005400-96033800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:96005600-96026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:96006200-96043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:96007000-96020400	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:96008000-96030200	Strong transcription	Fetal Intestine Small	intestine
9	chr9:96008000-96030400	Strong transcription	Fetal Intestine Large	intestine
10	chr9:96008200-96026600	Weak transcription	Spleen	Spleen
11	chr9:96008200-96027600	Weak transcription	Right Atrium	heart
12	chr9:96008800-96026200	Weak transcription	Placenta	Placenta
13	chr9:96011000-96026400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:96011200-96018600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:96011200-96019400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:96011200-96030600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:96011200-96032800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:96011200-96033400	Weak transcription	A549	lung
19	chr9:96011800-96026200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:96012600-96019800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:96012800-96032600	Weak transcription	Fetal Brain Male	brain
22	chr9:96013000-96031400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:96013800-96022600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr9:96014000-96033800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr9:96014200-96019600	Strong transcription	HepG2	liver
26	chr9:96014400-96025400	Strong transcription	Brain Germinal Matrix	brain
27	chr9:96014400-96032800	Strong transcription	Fetal Brain Female	brain
28	chr9:96014600-96018600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:96014600-96019400	Weak transcription	Fetal Thymus	thymus
30	chr9:96014600-96021200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr9:96014800-96019400	Strong transcription	Pancreas	Pancrea
32	chr9:96014800-96026800	Weak transcription	Fetal Heart	heart
33	chr9:96015000-96020200	Weak transcription	Colon Smooth Muscle	Colon
34	chr9:96015000-96022200	Strong transcription	Fetal Stomach	stomach
35	chr9:96015200-96023400	Strong transcription	Right Ventricle	heart
36	chr9:96015400-96024000	Weak transcription	Left Ventricle	heart
37	chr9:96015400-96026600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr9:96015600-96019200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:96015800-96026200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:96016600-96019400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:96016600-96020600	Strong transcription	Colonic Mucosa	Colon
42	chr9:96017000-96019600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:96017400-96033200	Weak transcription	Brain Substantia Nigra	brain
44	chr9:96017600-96018400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:96017800-96019400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr9:96017800-96020200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:96017800-96024000	Weak transcription	Gastric	stomach
48	chr9:96017800-96026400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr9:96017800-96030200	Weak transcription	Brain Angular Gyrus	brain
50	chr9:96018000-96021800	Weak transcription	Brain Inferior Temporal Lobe	brain

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