Variant report

Variant	rs916332
Chromosome Location	chr22:29308414-29308415
allele	C/T
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	GATA3	chr22:29308282-29308628	MCF-7	breast:	n/a	chr22:29308397-29308413 chr22:29308401-29308408 chr22:29308408-29308415 chr22:29308408-29308415 chr22:29308408-29308415 chr22:29308401-29308408 chr22:29308406-29308419 chr22:29308394-29308415 chr22:29308407-29308417 chr22:29308562-29308570 chr22:29308560-29308572 chr22:29308408-29308417 chr22:29308401-29308422 chr22:29308401-29308408
2	FOXA1	chr22:29307604-29308641	HepG2	liver:	n/a	chr22:29307978-29307990
3	FOXA2	chr22:29307658-29308529	HepG2	liver:	n/a	chr22:29307978-29307990
4	FOXA2	chr22:29307664-29308612	HepG2	liver:	n/a	chr22:29307978-29307990
5	MAX	chr22:29307752-29308467	A549	lung:	n/a	chr22:29308223-29308234
6	TCF7L2	chr22:29307779-29308650	HEK293	kidney:	n/a	n/a
7	TCF7L2	chr22:29308192-29308649	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr22:29307786-29308530	Hela-S3	cervix:	n/a	n/a
9	ARID3A	chr22:29307728-29308466	HepG2	liver:	n/a	n/a
10	MAX	chr22:29307868-29308601	Hela-S3	cervix:	n/a	chr22:29308223-29308234
11	EP300	chr22:29307939-29308434	HepG2	liver:	n/a	chr22:29308070-29308080
12	TCF7L2	chr22:29308194-29308636	HepG2	liver:	n/a	n/a
13	KAP1	chr22:29307565-29308552	U2OS	brain:	n/a	n/a
14	FOXA1	chr22:29307653-29308433	HepG2	liver:	n/a	chr22:29307978-29307990
15	EP300	chr22:29307594-29308645	HepG2	liver:	n/a	chr22:29308070-29308080 chr22:29307839-29307853
16	CTCF	chr22:29308400-29308550	HepG2	liver:	n/a	n/a
17	GATA3	chr22:29307774-29308634	A549	lung:	n/a	chr22:29308397-29308413 chr22:29308401-29308408 chr22:29308408-29308415 chr22:29308408-29308415 chr22:29308408-29308415 chr22:29308401-29308408 chr22:29308406-29308419 chr22:29308394-29308415 chr22:29308407-29308417 chr22:29308562-29308570 chr22:29307804-29307812 chr22:29308560-29308572 chr22:29308408-29308417 chr22:29308401-29308422 chr22:29308401-29308408
18	SP1	chr22:29307678-29308573	HepG2	liver:	n/a	chr22:29307744-29307758 chr22:29308519-29308533 chr22:29308511-29308524
19	EP300	chr22:29307677-29308628	HepG2	liver:	n/a	chr22:29308070-29308080 chr22:29307839-29307853
20	TEAD4	chr22:29307657-29308646	HepG2	liver:	n/a	n/a
21	E2F6	chr22:29307957-29308465	A549	lung:	n/a	n/a
22	MAX	chr22:29307751-29308659	HepG2	liver:	n/a	chr22:29308223-29308234
23	MYBL2	chr22:29307667-29308572	HepG2	liver:	n/a	n/a
24	NFIC	chr22:29307653-29308590	HepG2	liver:	n/a	n/a
25	NFIC	chr22:29307707-29308638	HepG2	liver:	n/a	n/a
26	HNF4G	chr22:29308272-29308561	HepG2	liver:	n/a	chr22:29308350-29308372 chr22:29308351-29308363 chr22:29308352-29308370 chr22:29308354-29308368
27	REST	chr22:29307691-29308626	A549	lung:	n/a	chr22:29308256-29308274 chr22:29308345-29308353
28	RCOR1	chr22:29307714-29308487	Hela-S3	cervix:	n/a	n/a
29	SP1	chr22:29307695-29308561	A549	lung:	n/a	chr22:29307744-29307758 chr22:29308519-29308533 chr22:29308511-29308524
30	GATA3	chr22:29307696-29308631	A549	lung:	n/a	chr22:29308397-29308413 chr22:29308401-29308408 chr22:29308408-29308415 chr22:29308408-29308415 chr22:29308408-29308415 chr22:29308401-29308408 chr22:29308406-29308419 chr22:29308394-29308415 chr22:29308407-29308417 chr22:29308562-29308570 chr22:29307804-29307812 chr22:29308560-29308572 chr22:29308408-29308417 chr22:29308401-29308422 chr22:29308401-29308408
31	KAP1	chr22:29307180-29308595	HEK293	kidney:	n/a	n/a
32	TCF12	chr22:29307515-29308661	A549	lung:	n/a	chr22:29307985-29307994
33	MBD4	chr22:29308024-29308567	HepG2	liver:	n/a	n/a
34	PRDM1	chr22:29307906-29308438	Hela-S3	cervix:	n/a	n/a
35	MYBL2	chr22:29307638-29308475	HepG2	liver:	n/a	n/a
36	HDAC2	chr22:29307648-29308584	HepG2	liver:	n/a	n/a
37	FOXA1	chr22:29307615-29308452	HepG2	liver:	n/a	chr22:29307978-29307990
38	CEBPB	chr22:29307650-29308553	Hela-S3	cervix:	n/a	chr22:29307842-29307853 chr22:29307841-29307852 chr22:29307841-29307852 chr22:29307841-29307854
39	TCF7L2	chr22:29307848-29308652	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29194488..29196341-chr22:29307007..29309890,3	MCF-7	breast:
2	chr22:29307320..29309018-chr22:29331038..29332633,2	K562	blood:
3	chr22:29280624..29284164-chr22:29307760..29311501,3	MCF-7	breast:

Variant related genes	Relation type
ZNRF3	TF binding region
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13053879	0.83[AFR][1000 genomes]
rs13056243	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13058031	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13058453	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16986825	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16986838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986861	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16986864	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2347448	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs28360615	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34206997	0.83[AFR][1000 genomes]
rs34578331	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35050306	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs35814864	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4055	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5752816	0.83[AFR][1000 genomes]
rs5762857	0.83[AFR][1000 genomes]
rs59203761	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs59224170	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs60468718	0.83[AFR][1000 genomes]
rs73170679	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7364229	0.81[ASN][1000 genomes]
rs739196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29296800-29310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:29298400-29310400	Enhancers	Fetal Intestine Large	intestine
3	chr22:29299000-29309200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr22:29303800-29313200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:29304400-29309400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29304400-29312400	Weak transcription	Fetal Brain Female	brain
7	chr22:29304400-29312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29304600-29312600	Weak transcription	Fetal Brain Male	brain
9	chr22:29304600-29313000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:29304800-29313800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:29305000-29312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:29305000-29313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:29305400-29309600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:29305600-29313600	Weak transcription	NHEK	skin
15	chr22:29305800-29310000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:29306400-29308600	Enhancers	Fetal Heart	heart
17	chr22:29306400-29308600	Enhancers	Fetal Muscle Leg	muscle
18	chr22:29306400-29308600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr22:29306400-29308600	Enhancers	Hela-S3	cervix
20	chr22:29306400-29309200	Enhancers	Liver	Liver
21	chr22:29306400-29309200	Enhancers	Placenta	Placenta
22	chr22:29306400-29309600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:29306400-29309800	Enhancers	Rectal Smooth Muscle	rectum
24	chr22:29306400-29310400	Enhancers	Colon Smooth Muscle	Colon
25	chr22:29306400-29310400	Enhancers	Fetal Lung	lung
26	chr22:29306400-29311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:29306600-29308600	Enhancers	Adipose Nuclei	Adipose
28	chr22:29306600-29308600	Enhancers	Left Ventricle	heart
29	chr22:29306600-29308600	Enhancers	Pancreas	Pancrea
30	chr22:29306600-29308600	Enhancers	Right Atrium	heart
31	chr22:29306600-29308600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr22:29306600-29308600	Enhancers	Osteobl	bone
33	chr22:29306600-29309200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr22:29306800-29308600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:29306800-29308600	Enhancers	NHLF	lung
36	chr22:29307000-29308600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:29307000-29308600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:29307000-29309400	Enhancers	Brain Anterior Caudate	brain
39	chr22:29307000-29309600	Enhancers	Duodenum Mucosa	Duodenum
40	chr22:29307000-29309800	Enhancers	Fetal Intestine Small	intestine
41	chr22:29307000-29310200	Enhancers	Psoas Muscle	Psoas
42	chr22:29307000-29310400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr22:29307200-29308600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:29307200-29308600	Enhancers	Fetal Kidney	kidney
45	chr22:29307400-29309200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:29307400-29309800	Weak transcription	Lung	lung
47	chr22:29307400-29310200	Weak transcription	Esophagus	oesophagus
48	chr22:29307400-29313000	Weak transcription	Brain Substantia Nigra	brain
49	chr22:29307600-29308600	Enhancers	Small Intestine	intestine
50	chr22:29307600-29308600	Flanking Active TSS	A549	lung

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