Variant report

Variant	rs4744114
Chromosome Location	chr9:94652581-94652582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94650894..94652826-chr9:94665751..94669153,3	K562	blood:
2	chr9:94641817..94643317-chr9:94650910..94653000,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10116351	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10116962	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10761133	0.84[JPT][hapmap]
rs10761134	0.80[JPT][hapmap]
rs10820911	0.85[JPT][hapmap]
rs10992151	0.80[JPT][hapmap]
rs10992154	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744112	0.83[CHB][hapmap]
rs6479379	0.86[ASN][1000 genomes]
rs7858435	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7867567	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4744114	CDK20	cis	parietal	SCAN
rs4744114	ZNF484	cis	cerebellum	SCAN
rs4744114	SPTLC1	cis	parietal	SCAN
rs4744114	NXNL2	cis	parietal	SCAN
rs4744114	ZNF484	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94646000-94652600	Enhancers	Ovary	ovary
2	chr9:94646000-94654800	Enhancers	Fetal Lung	lung
3	chr9:94646600-94654600	Enhancers	Fetal Stomach	stomach
4	chr9:94646600-94658200	Weak transcription	Fetal Heart	heart
5	chr9:94647200-94652600	Enhancers	Fetal Intestine Large	intestine
6	chr9:94648800-94653200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:94648800-94658400	Weak transcription	Pancreas	Pancrea
8	chr9:94648800-94661000	Weak transcription	Spleen	Spleen
9	chr9:94649400-94663200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:94649800-94658400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:94650000-94653400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:94650000-94662400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:94650400-94653600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr9:94650600-94654600	Enhancers	Rectal Smooth Muscle	rectum
15	chr9:94650800-94652600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:94651000-94652800	Weak transcription	Fetal Kidney	kidney
17	chr9:94651200-94653200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:94651200-94659200	Enhancers	Colon Smooth Muscle	Colon
19	chr9:94651200-94665000	Weak transcription	NHLF	lung
20	chr9:94651600-94652600	Genic enhancers	Fetal Intestine Small	intestine
21	chr9:94651600-94653200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:94651600-94653800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:94651600-94656400	Weak transcription	K562	blood
24	chr9:94651600-94660800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:94651800-94652600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:94651800-94659200	Enhancers	Stomach Smooth Muscle	stomach
27	chr9:94652000-94652600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:94652000-94656200	Weak transcription	Right Atrium	heart
29	chr9:94652000-94658000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:94652000-94659200	Weak transcription	Colonic Mucosa	Colon
31	chr9:94652000-94661000	Weak transcription	Lung	lung
32	chr9:94652200-94652600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:94652400-94654000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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