Variant report

Variant	rs4802113
Chromosome Location	chr19:41740895-41740896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41730351..41733971-chr19:41737087..41743441,7	K562	blood:
2	chr19:41740738..41742359-chr19:41744451..41746880,2	K562	blood:
3	chr19:41730730..41737018-chr19:41737152..41743219,7	K562	blood:

Variant related genes	Relation type
ENSG00000167601	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10421990	0.89[CHB][hapmap]
rs11879562	0.89[CHB][hapmap]
rs11882467	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs12327659	0.89[CHB][hapmap]
rs12462203	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12975585	0.95[CHB][hapmap]
rs12978098	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12978323	0.85[CHB][hapmap]
rs12979764	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12980248	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12980480	0.89[CHB][hapmap]
rs12983047	0.84[CHB][hapmap]
rs12984621	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1865051	0.84[CHB][hapmap]
rs1865053	0.89[CHB][hapmap]
rs2304230	0.89[CHB][hapmap]
rs2304234	0.89[CHB][hapmap];0.82[LWK][hapmap];0.82[ASN][1000 genomes]
rs3745295	0.89[CHB][hapmap]
rs3752705	0.89[CHB][hapmap]
rs3816052	0.89[CHB][hapmap]
rs3826714	0.84[CHB][hapmap]
rs4456618	0.89[CHB][hapmap]
rs4802111	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4802112	0.95[CHB][hapmap]
rs4802115	0.81[ASN][1000 genomes]
rs4803448	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803449	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs6508974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67033402	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6957	0.84[CHB][hapmap]
rs7245398	0.89[CHB][hapmap]
rs7246525	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7248164	0.89[CHB][hapmap]
rs7257310	0.84[CHB][hapmap]
rs7258749	0.89[CHB][hapmap]
rs8109167	0.84[CHB][hapmap]
rs8109627	0.84[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4802113	ZNF226	cis	cerebellum	SCAN
rs4802113	BAX	cis	cerebellum	SCAN
rs4802113	FOSB	cis	parietal	SCAN
rs4802113	ZNF155	cis	parietal	SCAN
rs4802113	FLT3LG	cis	cerebellum	SCAN
rs4802113	ERF	cis	cerebellum	SCAN
rs4802113	SIX5	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41730200-41762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41732600-41768800	Weak transcription	Small Intestine	intestine
3	chr19:41732800-41742800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:41732800-41745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:41733000-41743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:41733000-41743200	Weak transcription	Right Ventricle	heart
7	chr19:41733000-41743600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:41733000-41743600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:41733000-41743600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:41733000-41743600	Weak transcription	Esophagus	oesophagus
11	chr19:41733000-41743600	Weak transcription	Spleen	Spleen
12	chr19:41733000-41743800	Weak transcription	Colonic Mucosa	Colon
13	chr19:41733000-41744200	Weak transcription	Gastric	stomach
14	chr19:41733000-41745200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:41733200-41741400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:41733200-41745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:41733200-41746000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:41733200-41749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:41733200-41767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:41733200-41767200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr19:41733800-41744800	Weak transcription	Fetal Intestine Large	intestine
22	chr19:41734000-41748600	Weak transcription	Hela-S3	cervix
23	chr19:41735400-41741600	Strong transcription	NHEK	skin
24	chr19:41736000-41752400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:41736000-41767200	Strong transcription	Osteobl	bone
26	chr19:41736000-41767400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:41736200-41743800	Weak transcription	Brain Anterior Caudate	brain
28	chr19:41736200-41745200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:41736200-41757000	Strong transcription	NH-A	brain
30	chr19:41736400-41741800	Strong transcription	HMEC	breast
31	chr19:41736400-41767800	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr19:41736600-41741600	Strong transcription	A549	lung
33	chr19:41736600-41741800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:41736600-41743600	Weak transcription	Lung	lung
35	chr19:41736600-41743600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:41736600-41745600	Weak transcription	Fetal Kidney	kidney
37	chr19:41736600-41757200	Strong transcription	NHLF	lung
38	chr19:41736600-41766200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:41736600-41766600	Strong transcription	Fetal Stomach	stomach
40	chr19:41736600-41767000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:41736600-41767200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:41736600-41767400	Strong transcription	HSMM	muscle
43	chr19:41736600-41767800	Weak transcription	Brain Angular Gyrus	brain
44	chr19:41736800-41742800	Weak transcription	K562	blood
45	chr19:41736800-41743600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr19:41736800-41754400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr19:41736800-41758200	Strong transcription	Fetal Muscle Leg	muscle
48	chr19:41736800-41762400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:41737000-41743800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:41737200-41744000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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