Variant report

Variant	rs4820867
Chromosome Location	chr22:30962160-30962161
allele	A/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	MAFK	chr22:30962071-30962240	HepG2	liver:	n/a	n/a
2	SP1	chr22:30962058-30962519	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:30962049-30962492	HepG2	liver:	n/a	n/a
4	RAD21	chr22:30962160-30962425	HepG2	liver:	n/a	n/a
5	HNF4A	chr22:30962148-30962524	HepG2	liver:	n/a	chr22:30962308-30962321 chr22:30962206-30962221 chr22:30962306-30962321 chr22:30962308-30962320 chr22:30962306-30962321 chr22:30962306-30962321 chr22:30962308-30962321 chr22:30962306-30962321 chr22:30962306-30962321 chr22:30962307-30962320
6	HNF4A	chr22:30962107-30962504	HepG2	liver:	n/a	chr22:30962308-30962321 chr22:30962206-30962221 chr22:30962306-30962321 chr22:30962308-30962320 chr22:30962306-30962321 chr22:30962306-30962321 chr22:30962308-30962321 chr22:30962306-30962321 chr22:30962306-30962321 chr22:30962307-30962320
7	RCOR1	chr22:30961983-30962427	HepG2	liver:	n/a	n/a
8	HNF4G	chr22:30962088-30962523	HepG2	liver:	n/a	chr22:30962308-30962321 chr22:30962206-30962221 chr22:30962306-30962321 chr22:30962308-30962320 chr22:30962306-30962321 chr22:30962308-30962321 chr22:30962306-30962321 chr22:30962306-30962321 chr22:30962307-30962322 chr22:30962307-30962320
9	HNF4A	chr22:30962113-30962440	HepG2	liver:	n/a	chr22:30962308-30962321 chr22:30962206-30962221 chr22:30962306-30962321 chr22:30962308-30962320 chr22:30962306-30962321 chr22:30962306-30962321 chr22:30962308-30962321 chr22:30962306-30962321 chr22:30962306-30962321 chr22:30962307-30962320
10	FOSL2	chr22:30962106-30962433	A549	lung:	n/a	chr22:30962252-30962263 chr22:30962256-30962264 chr22:30962254-30962265
11	FOSL2	chr22:30962054-30962477	HepG2	liver:	n/a	chr22:30962252-30962263 chr22:30962256-30962264 chr22:30962254-30962265
12	BHLHE40	chr22:30962139-30962499	HepG2	liver:	n/a	n/a
13	HEY1	chr22:30962058-30962520	HepG2	liver:	n/a	n/a
14	MXI1	chr22:30962136-30962448	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30962134-30962184	HNPCEpiC	eye:	n/a
2	chr22:30962134-30962184	AG04449	skin:	fetal
3	chr22:30962134-30962184	AG10803	skin:	n/a
4	chr22:30962134-30962184	H1-hESC	embryonic stem cell:	embryo
5	chr22:30962134-30962184	BE2_C	brain:	n/a
6	chr22:30962134-30962184	HCF	heart:	n/a
7	chr22:30962134-30962184	K562	blood:	n/a
8	chr22:30962134-30962184	HMEC	breast:	n/a
9	chr22:30962134-30962184	NB4	blood:	n/a
10	chr22:30962134-30962184	U87	brain:	n/a
11	chr22:30962134-30962184	HL-60	blood:	n/a
12	chr22:30962134-30962184	SAEC	small airway:	n/a
13	chr22:30962134-30962184	MCF-7	breast:	n/a
14	chr22:30962134-30962184	HRCEpiC	kidney:	n/a
15	chr22:30962134-30962184	GM12891	blood:	n/a
16	chr22:30962134-30962184	A549	lung:	n/a
17	chr22:30962134-30962184	NH-A	brain:	n/a
18	chr22:30962134-30962184	ProgFib	skin:	n/a
19	chr22:30962134-30962184	Hepatocyte	liver:	n/a
20	chr22:30962134-30962184	HepG2	liver:	n/a
21	chr22:30962134-30962184	Caco-2	colon:	n/a
22	chr22:30962134-30962184	HCM	heart:	n/a
23	chr22:30962134-30962184	AG09319	gingival:	n/a
24	chr22:30962134-30962184	HAEpiC	amniotic membrane:	n/a
25	chr22:30962134-30962184	BJ	skin:	n/a
26	chr22:30962134-30962184	HEK293	kidney:	embryo
27	chr22:30962134-30962184	PFSK-1	brain:	n/a
28	chr22:30962134-30962184	AG04450	lung:	fetal
29	chr22:30962134-30962184	HRPEpiC	eye:	n/a
30	chr22:30962134-30962184	NHBE	bronchial:	n/a
31	chr22:30962134-30962184	GM12878	blood:	n/a
32	chr22:30962134-30962184	GM06990	blood:	n/a
33	chr22:30962134-30962184	GM12892	blood:	n/a
34	chr22:30962134-30962184	ovcar-3	ovarian:	n/a
35	chr22:30962134-30962184	AG09309	skin:	n/a
36	chr22:30962134-30962184	RPTEC	kidney:	n/a
37	chr22:30962134-30962184	HUVEC	blood vessel:	n/a
38	chr22:30962134-30962184	SKMC	muscle:	n/a
39	chr22:30962134-30962184	HCT-116	colon:	n/a
40	chr22:30962134-30962184	CMK	blood:	n/a
41	chr22:30962134-30962184	PANC-1	pancreas:	n/a
42	chr22:30962134-30962184	SK-N-MC	brain:	n/a
43	chr22:30962134-30962184	MCF10A-Er-Src	breast:	n/a
44	chr22:30962134-30962184	ECC-1	luminal epithelium:	n/a
45	chr22:30962134-30962184	LNCaP	prostate:	n/a
46	chr22:30962134-30962184	PrEC	prostate:	n/a
47	chr22:30962134-30962184	SK-N-SH_RA	brain:	n/a
48	chr22:30962134-30962184	HEEpiC	esophagus:	n/a
49	chr22:30962134-30962184	NT2-D1	testis:	n/a
50	chr22:30962134-30962184	IMR90	lung:	fetal

Variant related genes	Relation type
GAL3ST1	TF binding region
GAL3ST1	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12157809	1.00[ASN][1000 genomes]
rs12160098	1.00[ASN][1000 genomes]
rs12160394	1.00[ASN][1000 genomes]
rs13433576	1.00[ASN][1000 genomes]
rs16988925	1.00[ASN][1000 genomes]
rs16988927	1.00[ASN][1000 genomes]
rs2079432	1.00[ASN][1000 genomes]
rs35915865	1.00[ASN][1000 genomes]
rs4820020	1.00[ASN][1000 genomes]
rs4820880	1.00[ASN][1000 genomes]
rs4820881	1.00[ASN][1000 genomes]
rs4820884	1.00[ASN][1000 genomes]
rs4820889	1.00[ASN][1000 genomes]
rs55993542	1.00[ASN][1000 genomes]
rs56076607	1.00[ASN][1000 genomes]
rs5997702	1.00[ASN][1000 genomes]
rs5997712	1.00[ASN][1000 genomes]
rs60387370	1.00[ASN][1000 genomes]
rs72550763	1.00[ASN][1000 genomes]
rs73881479	0.83[AMR][1000 genomes]
rs73881483	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30944800-30968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:30953800-30965200	Weak transcription	Gastric	stomach
4	chr22:30958000-30969600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:30958200-30964000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:30958800-30962200	Weak transcription	Stomach Mucosa	stomach
7	chr22:30959800-30962400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr22:30960200-30962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:30960200-30962200	Enhancers	Brain Cingulate Gyrus	brain
10	chr22:30960200-30962400	Enhancers	Brain Hippocampus Middle	brain
11	chr22:30960200-30962400	Enhancers	Brain Substantia Nigra	brain
12	chr22:30960200-30962600	Enhancers	Brain Angular Gyrus	brain
13	chr22:30960400-30962600	Enhancers	A549	lung
14	chr22:30960800-30963200	Enhancers	Fetal Intestine Large	intestine
15	chr22:30960800-30969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:30961000-30962200	Enhancers	Brain Anterior Caudate	brain
17	chr22:30961000-30962400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:30961000-30962600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr22:30961000-30967200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr22:30961000-30967800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:30961200-30964000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:30961200-30964200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:30961200-30964600	Weak transcription	Brain Germinal Matrix	brain
24	chr22:30961400-30962400	Enhancers	Duodenum Mucosa	Duodenum
25	chr22:30961400-30969400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:30961600-30962200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr22:30961800-30962600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr22:30961800-30963200	Enhancers	Fetal Intestine Small	intestine
29	chr22:30961800-30968000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:30962000-30962200	Flanking Active TSS	HepG2	liver
31	chr22:30962000-30962400	Enhancers	Liver	Liver
32	chr22:30962000-30964000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:30962000-30964000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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