Variant report

Variant	rs547518941
Chromosome Location	chr22:31741400-31741401
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	MAX	chr22:31741294-31742187	ECC-1	luminal epithelium:	n/a	chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
2	POLR2A	chr22:31738526-31742192	GM12892	blood:	n/a	n/a
3	POLR2A	chr22:31738456-31744066	MCF-7	breast:	n/a	n/a
4	TCF12	chr22:31741374-31742605	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr22:31741313-31742050	GM12891	blood:	n/a	n/a
6	POLR2A	chr22:31738630-31742577	GM12892	blood:	n/a	n/a
7	CCNT2	chr22:31741319-31741451	K562	blood:	n/a	n/a
8	POLR2A	chr22:31741151-31744106	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:31740214-31742000	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr22:31739492-31744047	Raji	blood:	n/a	n/a
11	POLR2A	chr22:31738497-31742182	SK-N-MC	brain:	n/a	n/a
12	TAF1	chr22:31741378-31742497	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:31739705-31744036	GM19193	blood:	n/a	n/a
14	CTCF	chr22:31741360-31741510	AG10803	skin:	n/a	n/a
15	CTCF	chr22:31741320-31741470	NHLF	lung:	n/a	n/a
16	POLR2A	chr22:31738983-31744048	GM12891	blood:	n/a	n/a
17	CTCF	chr22:31741260-31741410	GM12864	blood:	n/a	n/a
18	POLR2A	chr22:31739252-31742187	GM12892	blood:	n/a	n/a
19	SIN3AK20	chr22:31741116-31744158	MCF-7	breast:	n/a	n/a
20	POLR2A	chr22:31741319-31742194	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr22:31740327-31743901	GM12892	blood:	n/a	n/a
22	CTCF	chr22:31740681-31742604	SK-N-SH	brain:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742361-31742370 chr22:31742043-31742056 chr22:31741936-31741952
23	MAX	chr22:31741051-31742591	H1-hESC	embryonic stem cell:	n/a	chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
24	SMC3	chr22:31741137-31742224	SK-N-SH	brain:	n/a	chr22:31741900-31741910 chr22:31742046-31742056 chr22:31741941-31741951
25	MAX	chr22:31741256-31742608	ECC-1	luminal epithelium:	n/a	chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31741681-31741697
26	POLR2A	chr22:31740928-31744061	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr22:31741362-31742655	H1-neurons	neurons:	n/a	n/a
28	MAZ	chr22:31740932-31744065	IMR90	lung:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716 chr22:31741681-31741697
29	CTCF	chr22:31741300-31741450	BJ	skin:	n/a	n/a
30	POLR2A	chr22:31741295-31743876	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr22:31737335-31744213	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr22:31741225-31743877	NB4	blood:	n/a	n/a
33	RCOR1	chr22:31741074-31741508	GM12878	blood:	n/a	n/a
34	POLR2A	chr22:31738110-31744074	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr22:31740327-31743929	GM18526	blood:	n/a	n/a
36	E2F6	chr22:31741070-31742113	H1-hESC	embryonic stem cell:	n/a	chr22:31741941-31741951 chr22:31741929-31741941 chr22:31741945-31741955 chr22:31741948-31741957 chr22:31741590-31741600 chr22:31741627-31741636 chr22:31742049-31742058
37	POLR2A	chr22:31740202-31741601	GM12878	blood:	n/a	n/a
38	SIN3A	chr22:31741261-31742527	H1-hESC	embryonic stem cell:	n/a	chr22:31741643-31741654 chr22:31742283-31742294 chr22:31742504-31742513 chr22:31742272-31742283
39	E2F6	chr22:31741357-31742542	K562	blood:	n/a	chr22:31741941-31741951 chr22:31741929-31741941 chr22:31741945-31741955 chr22:31741948-31741957 chr22:31741590-31741600 chr22:31741627-31741636 chr22:31742049-31742058 chr22:31742274-31742283
40	POLR2A	chr22:31739924-31744267	HepG2	liver:	n/a	n/a
41	CTCF	chr22:31741358-31741408	GM19240	blood:	n/a	n/a
42	MAX	chr22:31739223-31744088	MCF-7	breast:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741597-31741607 chr22:31739995-31740004 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716 chr22:31741681-31741697
43	POLR2A	chr22:31739395-31744061	GM12878	blood:	n/a	n/a
44	POLR2A	chr22:31739601-31741598	GM12891	blood:	n/a	n/a
45	MXI1	chr22:31741287-31742541	GM12878	blood:	n/a	n/a
46	ELF1	chr22:31740229-31742133	GM12878	blood:	n/a	chr22:31741610-31741622
47	ZEB1	chr22:31741300-31742160	GM12878	blood:	n/a	chr22:31741721-31741730
48	POLR2A	chr22:31741398-31742393	A549	lung:	n/a	n/a
49	E2F6	chr22:31740226-31742059	H1-hESC	embryonic stem cell:	n/a	chr22:31741941-31741951 chr22:31741929-31741941 chr22:31741945-31741955 chr22:31741948-31741957 chr22:31741590-31741600 chr22:31741627-31741636 chr22:31742049-31742058
50	MXI1	chr22:31741075-31742777	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31740767..31742486-chr9:131903487..131906077,2	MCF-7	breast:
2	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
3	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
4	chr22:31740048..31742045-chr22:32339591..32341543,2	MCF-7	breast:
5	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
6	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
7	chr11:62603352..62605695-chr22:31741151..31743312,2	MCF-7	breast:
8	chr12:111125271..111126771-chr22:31740803..31742794,2	MCF-7	breast:
9	chr22:31642721..31645848-chr22:31739450..31742880,5	MCF-7	breast:
10	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
11	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
12	chr22:31739363..31741917-chr22:31884740..31886779,4	MCF-7	breast:

Variant related genes	Relation type
PATZ1	TF binding region
ENSG00000213888	TF binding region
ENSG00000128254	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000119383	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000122986	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3425577	chr22:31740977-31743925	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
4	esv3430625	chr22:31741352-31743850	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31737800-31741400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
2	chr22:31738000-31741600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31738200-31741400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
4	chr22:31738200-31741800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr22:31738400-31741600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr22:31738400-31743800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr22:31738600-31741600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr22:31738800-31741600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr22:31738800-31741600	Flanking Active TSS	HUVEC	blood vessel
10	chr22:31738800-31741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:31738800-31743800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:31739000-31741400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr22:31739000-31741400	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr22:31739000-31741400	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr22:31739000-31741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:31739000-31741600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr22:31739000-31741600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr22:31739000-31741600	Flanking Active TSS	HSMM	muscle
19	chr22:31739200-31741600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr22:31739200-31741600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr22:31739200-31741600	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr22:31739200-31741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:31739400-31741400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:31739400-31741400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr22:31739400-31741400	Flanking Active TSS	Thymus	Thymus
26	chr22:31739400-31741600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:31739400-31741600	Flanking Active TSS	Colonic Mucosa	Colon
28	chr22:31739400-31741800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr22:31739600-31741400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:31739600-31741400	Flanking Active TSS	Fetal Brain Male	brain
31	chr22:31739600-31741800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr22:31739600-31742000	Flanking Active TSS	Right Ventricle	heart
33	chr22:31739800-31741400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr22:31739800-31741600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr22:31739800-31741600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr22:31740000-31741400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:31740000-31741400	Transcr. at gene 5' and 3'	NHLF	lung
38	chr22:31740000-31741600	Enhancers	K562	blood
39	chr22:31740000-31744200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr22:31740200-31741600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:31740200-31741600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr22:31740200-31741800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr22:31740400-31741400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
44	chr22:31740400-31741600	Enhancers	Fetal Heart	heart
45	chr22:31740600-31741600	Flanking Active TSS	Esophagus	oesophagus
46	chr22:31740600-31741800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr22:31740600-31741800	Flanking Active TSS	Liver	Liver
48	chr22:31740600-31741800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr22:31740600-31743800	Active TSS	Fetal Kidney	kidney
50	chr22:31740800-31741400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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