Variant report

Variant	rs547113018
Chromosome Location	chr22:29279405-29279406
allele	A/C
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	USF1	chr22:29279357-29279683	SK-N-SH_RA	brain:	n/a	chr22:29279640-29279656 chr22:29279457-29279473 chr22:29279643-29279659 chr22:29279490-29279506 chr22:29279641-29279657
2	HEY1	chr22:29279364-29279772	HepG2	liver:	n/a	chr22:29279640-29279655 chr22:29279462-29279477 chr22:29279494-29279509
3	POLR2A	chr22:29279371-29279759	HCT-116	colon:	n/a	n/a
4	USF2	chr22:29279405-29279721	HepG2	liver:	n/a	chr22:29279640-29279656 chr22:29279457-29279473 chr22:29279643-29279659 chr22:29279490-29279506 chr22:29279641-29279657
5	MYC	chr22:29278538-29280080	MCF10A-Er-Src	breast:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
6	BHLHE40	chr22:29279396-29280060	K562	blood:	n/a	chr22:29279640-29279656 chr22:29279457-29279473 chr22:29279643-29279659 chr22:29279490-29279506 chr22:29279641-29279657
7	POLR2A	chr22:29278892-29279742	K562	blood:	n/a	n/a
8	EGR1	chr22:29278617-29279754	HCT-116	colon:	n/a	chr22:29279213-29279227 chr22:29279194-29279208 chr22:29278952-29278965 chr22:29279232-29279246
9	MAX	chr22:29278365-29279828	A549	lung:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
10	CREB1	chr22:29278932-29279755	A549	lung:	n/a	n/a
11	RCOR1	chr22:29278691-29279598	K562	blood:	n/a	n/a
12	CREB1	chr22:29279009-29279748	H1-hESC	embryonic stem cell:	n/a	n/a
13	EGR1	chr22:29279067-29279721	ECC-1	luminal epithelium:	n/a	chr22:29279213-29279227 chr22:29279194-29279208 chr22:29279232-29279246
14	HCFC1	chr22:29278451-29279798	Hela-S3	cervix:	n/a	n/a
15	MAX	chr22:29278475-29279772	H1-hESC	embryonic stem cell:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
16	CEBPD	chr22:29279365-29279771	HepG2	liver:	n/a	n/a
17	TAF1	chr22:29278664-29279773	ECC-1	luminal epithelium:	n/a	n/a
18	USF1	chr22:29279399-29279704	H1-hESC	embryonic stem cell:	n/a	chr22:29279640-29279656 chr22:29279457-29279473 chr22:29279643-29279659 chr22:29279490-29279506 chr22:29279641-29279657
19	POLR2A	chr22:29279335-29279779	ECC-1	luminal epithelium:	n/a	n/a
20	TCF7L2	chr22:29278992-29280024	Hela-S3	cervix:	n/a	chr22:29279577-29279591 chr22:29279580-29279589
21	CHD2	chr22:29278931-29279515	GM12878	blood:	n/a	chr22:29279409-29279419
22	POLR2A	chr22:29278679-29280142	MCF-7	breast:	n/a	n/a
23	REST	chr22:29279386-29279693	HepG2	liver:	n/a	n/a
24	USF1	chr22:29279402-29279708	A549	lung:	n/a	chr22:29279640-29279656 chr22:29279457-29279473 chr22:29279643-29279659 chr22:29279490-29279506 chr22:29279641-29279657
25	MAX	chr22:29278479-29279770	MCF-7	breast:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
26	FOXP2	chr22:29278980-29279765	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr22:29278368-29280058	HepG2	liver:	n/a	n/a
28	POLR2A	chr22:29278465-29281452	H1-hESC	embryonic stem cell:	n/a	n/a
29	TAF1	chr22:29279397-29279755	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF1	chr22:29279367-29279686	A549	lung:	n/a	chr22:29279640-29279656 chr22:29279457-29279473 chr22:29279643-29279659 chr22:29279490-29279506 chr22:29279641-29279657
31	MYC	chr22:29278448-29279762	K562	blood:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
32	FOXP2	chr22:29279361-29279650	SK-N-MC	brain:	n/a	n/a
33	MXI1	chr22:29278516-29279727	GM12878	blood:	n/a	n/a
34	HA-E2F1	chr22:29278955-29280283	Hela-S3	cervix:	n/a	chr22:29279645-29279655 chr22:29279639-29279649 chr22:29279642-29279652 chr22:29279494-29279504 chr22:29280104-29280114 chr22:29279132-29279147 chr22:29279512-29279524
35	SP1	chr22:29278947-29279599	H1-hESC	embryonic stem cell:	n/a	chr22:29279471-29279485 chr22:29279302-29279313 chr22:29279418-29279427 chr22:29279511-29279523 chr22:29279552-29279561 chr22:29279235-29279246 chr22:29279260-29279271 chr22:29279409-29279418 chr22:29279279-29279290 chr22:29279408-29279417 chr22:29279552-29279561 chr22:29279517-29279531 chr22:29279414-29279428 chr22:29279409-29279418 chr22:29279550-29279562 chr22:29279384-29279396 chr22:29279014-29279023 chr22:29279413-29279422 chr22:29279386-29279395 chr22:29279383-29279390 chr22:29279417-29279429 chr22:29279407-29279419 chr22:29279419-29279428 chr22:29279013-29279022 chr22:29279216-29279227 chr22:29279512-29279521 chr22:29279551-29279560 chr22:29279417-29279429
36	E2F6	chr22:29279395-29279858	K562	blood:	n/a	chr22:29279645-29279655 chr22:29279639-29279649 chr22:29279642-29279652 chr22:29279494-29279504 chr22:29279512-29279524
37	POLR2A	chr22:29278825-29279986	MCF-7	breast:	n/a	n/a
38	MAX	chr22:29278396-29279824	MCF-7	breast:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
39	MAX	chr22:29278572-29279773	SK-N-SH	brain:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
40	TAF1	chr22:29278763-29280131	HepG2	liver:	n/a	n/a
41	POLR2A	chr22:29278564-29279760	K562	blood:	n/a	n/a
42	POLR2A	chr22:29279315-29279793	H1-neurons	neurons:	n/a	n/a
43	RCOR1	chr22:29279020-29279705	Hela-S3	cervix:	n/a	n/a
44	EGR1	chr22:29278885-29279584	K562	blood:	n/a	chr22:29279213-29279227 chr22:29279194-29279208 chr22:29278952-29278965 chr22:29279232-29279246
45	POLR2A	chr22:29279379-29280162	A549	lung:	n/a	n/a
46	ZNF143	chr22:29279044-29279693	GM12878	blood:	n/a	n/a
47	MYC	chr22:29279319-29280113	MCF-7	breast:	n/a	n/a
48	MAX	chr22:29278401-29279864	HCT-116	colon:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
49	YY1	chr22:29279392-29279718	ECC-1	luminal epithelium:	n/a	chr22:29279644-29279655 chr22:29279607-29279618 chr22:29279647-29279656 chr22:29279642-29279656 chr22:29279639-29279653 chr22:29279641-29279652 chr22:29279497-29279508 chr22:29279464-29279475 chr22:29279641-29279650 chr22:29279589-29279598 chr22:29279644-29279653
50	MAX	chr22:29278558-29279757	HepG2	liver:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651

No.	Distal block	Cell Line	Cell type
1	chr22:29275977..29281461-chr22:29425203..29430435,9	MCF-7	breast:
2	chr16:31128850..31129465-chr22:29279200..29279987,2	Hela-S3	cervix:
3	chr22:29137399..29139735-chr22:29278518..29281229,2	MCF-7	breast:
4	chr22:29277854..29280834-chr3:15899899..15902425,2	MCF-7	breast:
5	chr22:29194507..29196726-chr22:29278986..29282462,3	MCF-7	breast:

Variant related genes	Relation type
ZNRF3	TF binding region
ENSG00000103510	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000206560	Chromatin interaction
ENSG00000177993	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3360361	chr22:29278452-29281300	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3379535	chr22:29278477-29281525	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv3397718	chr22:29278952-29280850	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29278400-29280400	Active TSS	Brain Cingulate Gyrus	brain
2	chr22:29278600-29280000	Active TSS	Colonic Mucosa	Colon
3	chr22:29278600-29280400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:29278600-29280400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:29278600-29280400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:29278600-29280400	Active TSS	Fetal Brain Female	brain
7	chr22:29278600-29280400	Active TSS	Psoas Muscle	Psoas
8	chr22:29278600-29280400	Active TSS	HSMMtube	muscle
9	chr22:29278600-29280400	Active TSS	NH-A	brain
10	chr22:29278600-29280600	Active TSS	Ovary	ovary
11	chr22:29278600-29281200	Active TSS	Aorta	Aorta
12	chr22:29278600-29281200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr22:29278600-29281600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:29278600-29282600	Active TSS	Brain Anterior Caudate	brain
15	chr22:29278800-29280200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr22:29278800-29280200	Active TSS	Spleen	Spleen
17	chr22:29278800-29280400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:29278800-29280400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:29278800-29280400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:29278800-29280400	Active TSS	Brain Substantia Nigra	brain
21	chr22:29278800-29280400	Active TSS	Lung	lung
22	chr22:29278800-29280400	Active TSS	Placenta Amnion	Placenta Amnion
23	chr22:29278800-29280400	Active TSS	Rectal Smooth Muscle	rectum
24	chr22:29278800-29280400	Active TSS	Hela-S3	cervix
25	chr22:29278800-29280400	Active TSS	NHLF	lung
26	chr22:29278800-29280600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr22:29278800-29280800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr22:29278800-29280800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr22:29278800-29280800	Active TSS	A549	lung
30	chr22:29278800-29281000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr22:29278800-29281200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr22:29278800-29281200	Active TSS	HSMM	muscle
33	chr22:29278800-29281600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr22:29278800-29281800	Active TSS	Fetal Kidney	kidney
35	chr22:29279000-29280200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:29279000-29280200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:29279000-29280200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:29279000-29280200	Active TSS	Placenta	Placenta
39	chr22:29279000-29280200	Active TSS	Fetal Stomach	stomach
40	chr22:29279000-29280200	Active TSS	Right Ventricle	heart
41	chr22:29279000-29280200	Active TSS	HepG2	liver
42	chr22:29279000-29280400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr22:29279000-29280400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr22:29279000-29280400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr22:29279000-29280400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:29279000-29280400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:29279000-29280400	Active TSS	Liver	Liver
48	chr22:29279000-29280400	Active TSS	Brain Hippocampus Middle	brain
49	chr22:29279000-29280400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr22:29279000-29280400	Active TSS	Duodenum Mucosa	Duodenum

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