Variant report

Variant	rs67772833
Chromosome Location	chr4:122723106-122723107
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	POLR2A	chr4:122721793-122723191	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr4:122723043-122723223	GM12878	blood:	n/a	n/a
3	CREB1	chr4:122721723-122723125	K562	blood:	n/a	n/a
4	POLR2A	chr4:122721471-122723160	K562	blood:	n/a	n/a
5	REST	chr4:122721760-122723214	H1-neurons	neurons:	n/a	n/a
6	CREB1	chr4:122721969-122723117	GM12878	blood:	n/a	n/a
7	JUND	chr4:122721758-122723242	SK-N-SH	brain:	n/a	n/a
8	IRF1	chr4:122721965-122723491	K562	blood:	n/a	chr4:122723394-122723411 chr4:122722326-122722340 chr4:122723221-122723233 chr4:122723396-122723410 chr4:122723398-122723409
9	POLR2A	chr4:122721312-122723213	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr4:122721619-122723260	SK-N-SH	brain:	n/a	n/a
11	JUND	chr4:122723081-122723111	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr4:122721719-122723144	IMR90	lung:	n/a	n/a
13	POLR2A	chr4:122721120-122723542	K562	blood:	n/a	n/a
14	SIN3A	chr4:122722056-122723285	H1-hESC	embryonic stem cell:	n/a	n/a
15	NRF1	chr4:122721738-122723141	SK-N-SH	brain:	n/a	chr4:122722414-122722425
16	POLR2A	chr4:122721469-122723213	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:122719927..122724442-chr4:122741540..122746604,11	MCF-7	breast:
2	chr4:122722789..122724421-chr4:122743647..122745561,2	MCF-7	breast:
3	chr4:122720772..122725008-chr4:122725244..122729002,8	K562	blood:
4	chr4:122616868..122619074-chr4:122720747..122723892,4	MCF-7	breast:

Variant related genes	Relation type
EXOSC9	TF binding region
ENSG00000145386	Chromatin interaction
ENSG00000123737	Chromatin interaction
ENSG00000164111	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11098645	0.95[EUR][1000 genomes]
rs11098646	0.95[EUR][1000 genomes]
rs11098648	0.95[EUR][1000 genomes]
rs11731570	0.92[EUR][1000 genomes]
rs11731917	0.91[EUR][1000 genomes]
rs12512876	0.91[EUR][1000 genomes]
rs1396080	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1507994	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1507995	0.94[EUR][1000 genomes]
rs17452156	0.95[EUR][1000 genomes]
rs2063165	0.95[EUR][1000 genomes]
rs2071486	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2221628	0.90[EUR][1000 genomes]
rs3217753	0.95[EUR][1000 genomes]
rs3217771	0.95[EUR][1000 genomes]
rs3217773	0.95[EUR][1000 genomes]
rs3217780	0.95[EUR][1000 genomes]
rs3828485	0.93[EUR][1000 genomes]
rs4077102	0.85[EUR][1000 genomes]
rs4516739	0.85[EUR][1000 genomes]
rs56077950	0.92[EUR][1000 genomes]
rs56159666	0.91[EUR][1000 genomes]
rs56311153	0.95[EUR][1000 genomes]
rs58649165	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61217486	0.83[EUR][1000 genomes]
rs6534323	0.83[EUR][1000 genomes]
rs6815790	0.83[EUR][1000 genomes]
rs6823818	0.95[EUR][1000 genomes]
rs6826506	0.85[EUR][1000 genomes]
rs6838153	0.92[EUR][1000 genomes]
rs6855269	0.84[EUR][1000 genomes]
rs72680779	0.90[EUR][1000 genomes]
rs7660548	0.95[EUR][1000 genomes]
rs7686084	0.94[EUR][1000 genomes]
rs7686200	0.95[EUR][1000 genomes]
rs7691955	0.85[EUR][1000 genomes]
rs769238	0.95[EUR][1000 genomes]
rs769246	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7699776	0.95[EUR][1000 genomes]
rs9684587	0.93[EUR][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122721200-122723600	Active TSS	Thymus	Thymus
2	chr4:122721400-122723200	Active TSS	K562	blood
3	chr4:122721600-122723200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:122721600-122723200	Active TSS	Primary T cells fromperipheralblood	blood
5	chr4:122721600-122723200	Active TSS	Brain Angular Gyrus	brain
6	chr4:122721600-122723400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:122721600-122723600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:122721800-122723200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr4:122721800-122723200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:122721800-122723200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:122721800-122723200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr4:122721800-122723200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:122721800-122723200	Active TSS	Colonic Mucosa	Colon
14	chr4:122721800-122723200	Active TSS	Fetal Kidney	kidney
15	chr4:122721800-122723200	Active TSS	Fetal Muscle Trunk	muscle
16	chr4:122721800-122723200	Active TSS	Placenta	Placenta
17	chr4:122721800-122723200	Active TSS	Ovary	ovary
18	chr4:122721800-122723200	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr4:122721800-122723200	Active TSS	Right Ventricle	heart
20	chr4:122721800-122723200	Active TSS	HSMMtube	muscle
21	chr4:122721800-122723200	Active TSS	NHLF	lung
22	chr4:122721800-122723400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:122721800-122723400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:122721800-122723400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:122721800-122723400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:122721800-122723400	Active TSS	Brain Germinal Matrix	brain
27	chr4:122721800-122723400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr4:122721800-122723400	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:122721800-122723400	Active TSS	Right Atrium	heart
30	chr4:122721800-122723600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr4:122721800-122723600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr4:122721800-122723600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:122721800-122723600	Active TSS	Psoas Muscle	Psoas
34	chr4:122721800-122723800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:122722000-122723200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:122722000-122723200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:122722000-122723200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:122722000-122723200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:122722000-122723200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:122722000-122723200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:122722000-122723200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:122722000-122723200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:122722000-122723200	Active TSS	Brain Cingulate Gyrus	brain
44	chr4:122722000-122723200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr4:122722000-122723200	Active TSS	Lung	lung
46	chr4:122722000-122723200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr4:122722000-122723400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:122722000-122723400	Active TSS	Duodenum Mucosa	Duodenum
49	chr4:122722000-122723400	Active TSS	Fetal Intestine Large	intestine
50	chr4:122722000-122723600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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