Variant report

Variant	rs4820044
Chromosome Location	chr22:31687313-31687314
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	chr22:31685486-31688678	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:31686390-31689023	IMR90	lung:	n/a	n/a
3	E2F6	chr22:31686468-31687322	K562	blood:	n/a	chr22:31686849-31686859 chr22:31686775-31686785 chr22:31686843-31686852
4	SIN3A	chr22:31686477-31687351	H1-hESC	embryonic stem cell:	n/a	chr22:31686910-31686919
5	MAX	chr22:31686371-31687390	K562	blood:	n/a	n/a
6	EP300	chr22:31686358-31687405	ECC-1	luminal epithelium:	n/a	chr22:31686776-31686785
7	MAX	chr22:31686355-31687371	ECC-1	luminal epithelium:	n/a	n/a
8	RFX5	chr22:31686144-31689109	SK-N-SH	brain:	n/a	chr22:31686823-31686832
9	E2F6	chr22:31686424-31687346	A549	lung:	n/a	chr22:31686849-31686859 chr22:31686775-31686785 chr22:31686843-31686852
10	EP300	chr22:31686391-31688816	SK-N-SH	brain:	n/a	chr22:31686776-31686785 chr22:31687715-31687723 chr22:31687907-31687920
11	HMGN3	chr22:31686555-31687422	K562	blood:	n/a	n/a
12	BHLHE40	chr22:31686422-31688060	HepG2	liver:	n/a	chr22:31686908-31686924
13	POLR2A	chr22:31686469-31687421	MCF-7	breast:	n/a	n/a
14	REST	chr22:31686416-31687333	H1-neurons	neurons:	n/a	n/a
15	MAX	chr22:31686399-31687323	MCF-7	breast:	n/a	n/a
16	POLR2A	chr22:31686472-31687449	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr22:31686381-31687365	GM12892	blood:	n/a	n/a
18	MAX	chr22:31686408-31687330	ECC-1	luminal epithelium:	n/a	n/a
19	E2F6	chr22:31686334-31687398	H1-hESC	embryonic stem cell:	n/a	chr22:31686849-31686859 chr22:31686775-31686785 chr22:31686843-31686852
20	POLR2A	chr22:31686448-31687318	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr22:31686513-31687435	H1-neurons	neurons:	n/a	n/a
22	MXI1	chr22:31686286-31688800	IMR90	lung:	n/a	n/a
23	SIN3AK20	chr22:31686248-31687366	MCF-7	breast:	n/a	n/a
24	POLR2A	chr22:31686428-31687422	GM12878	blood:	n/a	n/a
25	MAX	chr22:31686353-31687344	A549	lung:	n/a	n/a
26	MAX	chr22:31686428-31687313	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr22:31686461-31687419	GM12878	blood:	n/a	n/a
28	POLR2A	chr22:31685974-31687359	GM12892	blood:	n/a	n/a
29	ZBTB7A	chr22:31687260-31687434	K562	blood:	n/a	n/a
30	BHLHE40	chr22:31686394-31687861	GM12878	blood:	n/a	chr22:31686908-31686924
31	MXI1	chr22:31686265-31688952	SK-N-SH	brain:	n/a	n/a
32	ZBTB7A	chr22:31686560-31687431	ECC-1	luminal epithelium:	n/a	n/a
33	ZBTB7A	chr22:31686652-31687456	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr22:31686521-31687419	HUVEC	blood vessel:	n/a	n/a
35	ELF1	chr22:31685981-31687433	GM12878	blood:	n/a	chr22:31686300-31686313 chr22:31686774-31686783 chr22:31686837-31686846 chr22:31686849-31686861 chr22:31687398-31687410
36	POLR2A	chr22:31686463-31687451	GM12878	blood:	n/a	n/a
37	MAX	chr22:31686388-31687339	HepG2	liver:	n/a	n/a
38	POLR2A	chr22:31685962-31687330	K562	blood:	n/a	n/a
39	ZEB1	chr22:31686604-31687408	GM12878	blood:	n/a	n/a
40	POLR2A	chr22:31685377-31687778	GM18505	blood:	n/a	n/a
41	POLR2A	chr22:31687313-31687336	H1-hESC	embryonic stem cell:	n/a	n/a
42	BHLHE40	chr22:31686118-31688719	K562	blood:	n/a	chr22:31686908-31686924
43	POLR2A	chr22:31686489-31688763	Raji	blood:	n/a	n/a
44	E2F6	chr22:31686541-31687343	K562	blood:	n/a	chr22:31686849-31686859 chr22:31686775-31686785 chr22:31686843-31686852
45	CCNT2	chr22:31686566-31687373	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149223846..149224636-chr22:31687134..31687716,2	Hela-S3	cervix:
2	chr22:31686029..31689751-chr22:31793811..31797004,3	K562	blood:
3	chr22:31686927..31688705-chr22:31793727..31795655,2	K562	blood:
4	chr22:31686869..31687420-chr3:129032732..129033436,2	Hela-S3	cervix:
5	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
6	chr22:31685604..31688964-chr22:31794244..31796594,4	MCF-7	breast:
7	chr18:9613618..9614587-chr22:31686737..31687476,2	Hela-S3	cervix:
8	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
9	chr22:31686527..31689345-chr22:31795585..31798136,2	MCF-7	breast:
10	chr22:31642936..31645707-chr22:31684888..31688055,3	MCF-7	breast:
11	chr22:31608269..31610755-chr22:31686802..31688581,2	MCF-7	breast:
12	chr22:31686798..31687333-chr5:90678883..90679531,2	Hela-S3	cervix:
13	chr22:31478916..31481331-chr22:31687005..31689174,2	K562	blood:

Variant related genes	Relation type
ENSG00000228839	TF binding region
PIK3IP1	TF binding region
ENSG00000206737	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000213888	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2040532	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753463	1.00[ASW][hapmap]
rs9609261	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];1.00[AFR][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	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31680400-31688400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
2	chr22:31682600-31687400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
3	chr22:31683200-31688200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
4	chr22:31685800-31687400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr22:31685800-31688000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr22:31685800-31688600	Active TSS	Small Intestine	intestine
7	chr22:31685800-31688800	Active TSS	Psoas Muscle	Psoas
8	chr22:31686000-31687600	Active TSS	Liver	Liver
9	chr22:31686000-31687600	Active TSS	K562	blood
10	chr22:31686000-31688000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:31686000-31688600	Active TSS	Primary T cells from cord blood	blood
12	chr22:31686000-31688600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:31686000-31688600	Active TSS	Colonic Mucosa	Colon
14	chr22:31686000-31688600	Active TSS	Fetal Brain Female	brain
15	chr22:31686000-31688800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr22:31686000-31688800	Active TSS	Esophagus	oesophagus
17	chr22:31686000-31689000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:31686000-31689000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr22:31686000-31689800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr22:31686200-31687600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr22:31686200-31687600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:31686200-31687600	Active TSS	Duodenum Mucosa	Duodenum
23	chr22:31686200-31687600	Active TSS	Hela-S3	cervix
24	chr22:31686200-31687600	Active TSS	NHEK	skin
25	chr22:31686200-31687800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:31686200-31687800	Active TSS	Adipose Nuclei	Adipose
27	chr22:31686200-31687800	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr22:31686200-31688000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:31686200-31688200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr22:31686200-31688200	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr22:31686200-31688600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:31686200-31688600	Active TSS	Brain Anterior Caudate	brain
33	chr22:31686200-31688600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr22:31686200-31688600	Active TSS	Colon Smooth Muscle	Colon
35	chr22:31686200-31688600	Active TSS	Lung	lung
36	chr22:31686200-31688600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr22:31686200-31688800	Active TSS	Brain Hippocampus Middle	brain
38	chr22:31686200-31689000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr22:31686200-31689000	Active TSS	Brain Cingulate Gyrus	brain
40	chr22:31686200-31689000	Active TSS	Brain Substantia Nigra	brain
41	chr22:31686200-31689000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr22:31686200-31689000	Active TSS	Rectal Smooth Muscle	rectum
43	chr22:31686200-31689000	Active TSS	Right Atrium	heart
44	chr22:31686200-31689200	Active TSS	Brain Angular Gyrus	brain
45	chr22:31686200-31689200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:31686200-31689600	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr22:31686200-31689800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:31686400-31687400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr22:31686400-31687600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr22:31686400-31687600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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