Variant report

Variant	rs7290502
Chromosome Location	chr22:31885980-31885981
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	RCOR1	chr22:31885949-31886795	K562	blood:	n/a	n/a
2	NFIC	chr22:31885818-31886591	HepG2	liver:	n/a	n/a
3	PAX5	chr22:31885590-31886347	GM12892	blood:	n/a	chr22:31885601-31885610
4	MAZ	chr22:31885226-31886056	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:31885551-31887032	Raji	blood:	n/a	n/a
6	TAF1	chr22:31885844-31886318	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:31885774-31886985	GM12891	blood:	n/a	n/a
8	TAF1	chr22:31885743-31886244	GM12892	blood:	n/a	n/a
9	POLR2A	chr22:31885575-31886853	MCF10A-Er-Src	breast:	n/a	n/a
10	CREB1	chr22:31885517-31886848	HepG2	liver:	n/a	n/a
11	SPI1	chr22:31885805-31887037	HL-60	blood:	n/a	chr22:31886582-31886595 chr22:31886582-31886595 chr22:31886585-31886594 chr22:31886583-31886596
12	GTF2F1	chr22:31885958-31886308	K562	blood:	n/a	n/a
13	TBL1XR1	chr22:31885605-31886338	K562	blood:	n/a	n/a
14	REST	chr22:31885782-31886362	PFSK-1	brain:	n/a	chr22:31885891-31885904 chr22:31885941-31885954
15	BCL3	chr22:31885736-31886877	GM12878	blood:	n/a	chr22:31886110-31886123 chr22:31885839-31885848 chr22:31885911-31885924 chr22:31886109-31886118 chr22:31886609-31886618
16	PML	chr22:31885905-31886741	K562	blood:	n/a	n/a
17	NFIC	chr22:31885741-31887250	GM12878	blood:	n/a	n/a
18	ZNF143	chr22:31885654-31886865	GM12878	blood:	n/a	chr22:31886702-31886721
19	RUNX3	chr22:31885616-31887150	GM12878	blood:	n/a	n/a
20	POLR2A	chr22:31885069-31886889	Hela-S3	cervix:	n/a	n/a
21	CTBP2	chr22:31885815-31886739	H1-hESC	embryonic stem cell:	n/a	n/a
22	MEF2A	chr22:31885801-31886976	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:31885039-31886957	GM12878	blood:	n/a	n/a
24	MAX	chr22:31885027-31886858	K562	blood:	n/a	n/a
25	POLR2A	chr22:31885554-31888516	GM12878	blood:	n/a	n/a
26	POLR2A	chr22:31885629-31886441	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr22:31885596-31887110	GM12892	blood:	n/a	n/a
28	ELK1	chr22:31885790-31886238	GM12878	blood:	n/a	n/a
29	SP1	chr22:31885618-31886370	A549	lung:	n/a	chr22:31885724-31885733 chr22:31885838-31885850 chr22:31885858-31885870 chr22:31885860-31885869 chr22:31885858-31885870 chr22:31885859-31885873
30	POLR2A	chr22:31885696-31887122	GM12878	blood:	n/a	n/a
31	REST	chr22:31885736-31886306	HepG2	liver:	n/a	chr22:31885755-31885765 chr22:31885740-31885753 chr22:31885891-31885904 chr22:31885941-31885954
32	SIN3AK20	chr22:31885594-31886841	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr22:31884880-31888183	GM12892	blood:	n/a	n/a
34	POLR2A	chr22:31885405-31887044	HUVEC	blood vessel:	n/a	n/a
35	TAF1	chr22:31885830-31886054	SK-N-SH	brain:	n/a	n/a
36	HEY1	chr22:31885831-31886982	K562	blood:	n/a	chr22:31885935-31885950 chr22:31885892-31885907 chr22:31885970-31885985
37	TBL1XR1	chr22:31885688-31887194	GM12878	blood:	n/a	n/a
38	TAF1	chr22:31885581-31886126	H1-hESC	embryonic stem cell:	n/a	n/a
39	MTA3	chr22:31885852-31887526	GM12878	blood:	n/a	n/a
40	PAX5	chr22:31885616-31886999	GM12878	blood:	n/a	n/a
41	POLR2A	chr22:31885572-31886367	HCT-116	colon:	n/a	n/a
42	MAX	chr22:31885724-31886383	MCF-7	breast:	n/a	n/a
43	ARID3A	chr22:31885756-31886129	HepG2	liver:	n/a	n/a
44	IRF1	chr22:31885646-31886174	K562	blood:	n/a	n/a
45	HMGN3	chr22:31885118-31886322	K562	blood:	n/a	n/a
46	MYBL2	chr22:31885733-31886280	HepG2	liver:	n/a	n/a
47	TAF1	chr22:31885693-31886331	K562	blood:	n/a	n/a
48	POU2F2	chr22:31885828-31886952	GM12891	blood:	n/a	chr22:31886253-31886260 chr22:31886677-31886687 chr22:31886677-31886687 chr22:31886252-31886261 chr22:31886677-31886686 chr22:31886672-31886690 chr22:31886019-31886031 chr22:31886678-31886685
49	MAX	chr22:31885599-31886966	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr22:31885624-31886963	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31885954..31886634-chr7:157329747..157330647,2	NB4	blood:
2	chr22:31362414..31364814-chr22:31884704..31886596,2	K562	blood:
3	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
4	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
5	chr22:31739363..31741917-chr22:31884740..31886779,4	MCF-7	breast:
6	chr22:31883675..31887496-chr22:32025240..32029301,5	K562	blood:
7	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
8	22:31864703-31891033..22:32347255-32351014	K562	blood:
9	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
10	chr22:31884998..31887254-chr22:32026687..32028800,2	K562	blood:
11	chr22:31793990..31796986-chr22:31884678..31887767,3	K562	blood:
12	chr22:31850201..31852811-chr22:31884349..31886700,2	MCF-7	breast:
13	chr22:31884599..31887538-chr22:32147471..32150641,3	K562	blood:
14	chr22:31884421..31887375-chr22:32024434..32026202,2	MCF-7	breast:
15	chr22:31793990..31795602-chr22:31885862..31887767,2	K562	blood:
16	chr22:31741801..31743589-chr22:31885070..31888024,2	K562	blood:
17	chr22:31885118..31887084-chr22:32148124..32150324,2	MCF-7	breast:
18	chr22:31742290..31744009-chr22:31883766..31886602,4	MCF-7	breast:

Variant related genes	Relation type
EIF4ENIF1	TF binding region
ENSG00000133422	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000240591	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2144387	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413056	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3091392	0.82[AMR][1000 genomes]
rs5753629	0.84[AMR][1000 genomes]
rs5753683	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695455	0.82[AMR][1000 genomes]
rs695682	0.82[AMR][1000 genomes]
rs695708	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3324564	chr22:31884577-31887325	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3348685	chr22:31884652-31887150	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr22:31884200-31886800	Active TSS	GM12878-XiMat	blood
2	chr22:31884400-31886800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr22:31884600-31886800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:31884600-31886800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr22:31884600-31886800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:31884600-31887000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr22:31884600-31887000	Active TSS	Psoas Muscle	Psoas
8	chr22:31884600-31887000	Active TSS	Right Atrium	heart
9	chr22:31884600-31887200	Active TSS	Colonic Mucosa	Colon
10	chr22:31884600-31887200	Active TSS	Fetal Muscle Trunk	muscle
11	chr22:31884600-31887400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:31884800-31886200	Active TSS	Fetal Muscle Leg	muscle
13	chr22:31884800-31886200	Active TSS	Placenta	Placenta
14	chr22:31884800-31886200	Active TSS	HepG2	liver
15	chr22:31884800-31886400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr22:31884800-31886400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr22:31884800-31886400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:31884800-31886400	Active TSS	Fetal Thymus	thymus
19	chr22:31884800-31886400	Active TSS	HMEC	breast
20	chr22:31884800-31886600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:31884800-31886600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:31884800-31886600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr22:31884800-31886600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr22:31884800-31886600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr22:31884800-31886600	Active TSS	Fetal Stomach	stomach
26	chr22:31884800-31886600	Active TSS	HSMMtube	muscle
27	chr22:31884800-31886600	Active TSS	NHDF-Ad	bronchial
28	chr22:31884800-31886600	Active TSS	NHLF	lung
29	chr22:31884800-31886800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr22:31884800-31886800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr22:31884800-31886800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr22:31884800-31886800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:31884800-31886800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr22:31884800-31886800	Active TSS	Fetal Intestine Large	intestine
35	chr22:31884800-31886800	Active TSS	Fetal Intestine Small	intestine
36	chr22:31884800-31886800	Active TSS	Ovary	ovary
37	chr22:31884800-31886800	Active TSS	HSMM	muscle
38	chr22:31884800-31887000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:31884800-31887000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:31884800-31887000	Active TSS	Right Ventricle	heart
41	chr22:31884800-31887200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:31884800-31887200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr22:31884800-31887200	Active TSS	A549	lung
44	chr22:31884800-31887200	Active TSS	K562	blood
45	chr22:31885000-31886000	Active TSS	Placenta Amnion	Placenta Amnion
46	chr22:31885000-31886200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr22:31885000-31886400	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr22:31885000-31886400	Active TSS	Primary T cells from cord blood	blood
49	chr22:31885000-31886400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:31885000-31886400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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