Variant report

Variant	rs2236142
Chromosome Location	chr22:29137944-29137945
allele	C/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	UBTF	chr22:29137507-29138397	K562	blood:	n/a	n/a
2	MAX	chr22:29137505-29138102	H1-hESC	embryonic stem cell:	n/a	chr22:29137755-29137762 chr22:29137982-29137992
3	POLR2A	chr22:29137326-29139085	GM12891	blood:	n/a	n/a
4	ZNF143	chr22:29137546-29138655	H1-hESC	embryonic stem cell:	n/a	chr22:29137912-29137931 chr22:29137926-29137935 chr22:29137913-29137928 chr22:29137924-29137933 chr22:29137917-29137935
5	NANOG	chr22:29137674-29138455	H1-hESC	embryonic stem cell:	n/a	n/a
6	NFYA	chr22:29137659-29138314	GM12878	blood:	n/a	chr22:29137869-29137884 chr22:29137998-29138013 chr22:29137839-29137854 chr22:29137839-29137853 chr22:29137998-29138012 chr22:29137869-29137884 chr22:29138000-29138010 chr22:29137839-29137857 chr22:29137997-29138009 chr22:29137839-29137854 chr22:29137869-29137887 chr22:29137838-29137850 chr22:29137998-29138013
7	YY1	chr22:29137533-29138091	H1-hESC	embryonic stem cell:	n/a	chr22:29137858-29137869
8	ARID3A	chr22:29137362-29138120	K562	blood:	n/a	n/a
9	USF1	chr22:29137665-29138005	HepG2	liver:	n/a	n/a
10	RUNX3	chr22:29137335-29138728	GM12878	blood:	n/a	n/a
11	TBP	chr22:29137492-29138801	GM12878	blood:	n/a	n/a
12	POLR2A	chr22:29137508-29138816	HCT-116	colon:	n/a	n/a
13	HEY1	chr22:29137448-29138895	HepG2	liver:	n/a	chr22:29137857-29137872
14	SIX5	chr22:29137663-29138097	H1-hESC	embryonic stem cell:	n/a	chr22:29137923-29137937 chr22:29137926-29137935 chr22:29137924-29137933
15	USF1	chr22:29137627-29138154	SK-N-SH	brain:	n/a	n/a
16	SP1	chr22:29137580-29138185	H1-hESC	embryonic stem cell:	n/a	chr22:29137979-29137991 chr22:29137981-29137990 chr22:29137999-29138020 chr22:29137979-29137991 chr22:29137855-29137864 chr22:29137870-29137891
17	ZNF143	chr22:29137557-29138689	GM12878	blood:	n/a	chr22:29137912-29137931 chr22:29137926-29137935 chr22:29137913-29137928 chr22:29137924-29137933 chr22:29137917-29137935
18	MAZ	chr22:29137352-29139079	IMR90	lung:	n/a	chr22:29137755-29137762 chr22:29137982-29137992
19	E2F6	chr22:29137641-29137951	K562	blood:	n/a	chr22:29137862-29137872 chr22:29137841-29137850
20	POLR2A	chr22:29137312-29138705	GM12892	blood:	n/a	n/a
21	SP1	chr22:29137297-29138968	HCT-116	colon:	n/a	chr22:29137979-29137991 chr22:29138429-29138438 chr22:29137981-29137990 chr22:29137999-29138020 chr22:29138428-29138440 chr22:29137979-29137991 chr22:29137855-29137864 chr22:29138491-29138500 chr22:29137870-29137891 chr22:29138428-29138440
22	PAX5	chr22:29137638-29138379	GM12892	blood:	n/a	chr22:29137966-29137984
23	GATA3	chr22:29137866-29138212	T-47D	breast:	n/a	n/a
24	GABPA	chr22:29137434-29138921	SK-N-SH	brain:	n/a	n/a
25	PRDM1	chr22:29137562-29138023	Hela-S3	cervix:	n/a	chr22:29137748-29137757
26	TEAD4	chr22:29137455-29138236	K562	blood:	n/a	n/a
27	FOXM1	chr22:29137449-29138723	GM12878	blood:	n/a	n/a
28	SP1	chr22:29137493-29138695	GM12878	blood:	n/a	chr22:29137979-29137991 chr22:29138429-29138438 chr22:29137981-29137990 chr22:29137999-29138020 chr22:29138428-29138440 chr22:29137979-29137991 chr22:29137855-29137864 chr22:29138491-29138500 chr22:29137870-29137891 chr22:29138428-29138440
29	ZMIZ1	chr22:29137440-29138336	K562	blood:	n/a	n/a
30	USF1	chr22:29137554-29138159	ECC-1	luminal epithelium:	n/a	n/a
31	MXI1	chr22:29137535-29138777	HepG2	liver:	n/a	n/a
32	MXI1	chr22:29137076-29139717	SK-N-SH	brain:	n/a	n/a
33	YY1	chr22:29137784-29138280	GM12891	blood:	n/a	chr22:29137858-29137869
34	CHD2	chr22:29137605-29138622	H1-hESC	embryonic stem cell:	n/a	n/a
35	KAP1	chr22:29137462-29138868	U2OS	brain:	n/a	chr22:29138409-29138417
36	EP300	chr22:29137600-29138859	GM12878	blood:	n/a	chr22:29137613-29137627 chr22:29137789-29137805 chr22:29137632-29137645 chr22:29137945-29137959 chr22:29137748-29137757
37	FOS	chr22:29137674-29138080	GM12878	blood:	n/a	chr22:29137748-29137755 chr22:29137748-29137757 chr22:29137843-29137852 chr22:29137746-29137757 chr22:29138002-29138011 chr22:29137751-29137759
38	GABPA	chr22:29137689-29138133	HepG2	liver:	n/a	n/a
39	SPI1	chr22:29137429-29138131	GM12878	blood:	n/a	chr22:29137736-29137749 chr22:29137738-29137747
40	SPI1	chr22:29137814-29138039	K562	blood:	n/a	n/a
41	HEY1	chr22:29137561-29138583	HepG2	liver:	n/a	chr22:29137857-29137872
42	MYC	chr22:29137301-29138626	K562	blood:	n/a	chr22:29137755-29137762 chr22:29137982-29137992
43	CTCF	chr22:29137820-29137970	GM12866	blood:	n/a	n/a
44	POLR2A	chr22:29137500-29138882	HepG2	liver:	n/a	n/a
45	SPI1	chr22:29137364-29138140	GM12891	blood:	n/a	chr22:29137736-29137749 chr22:29137738-29137747
46	TBL1XR1	chr22:29137455-29138694	GM12878	blood:	n/a	n/a
47	MAX	chr22:29137495-29138282	MCF-7	breast:	n/a	chr22:29137755-29137762 chr22:29137982-29137992
48	IRF4	chr22:29137416-29137977	GM12878	blood:	n/a	n/a
49	RFX5	chr22:29137339-29138017	K562	blood:	n/a	chr22:29138001-29138010 chr22:29137842-29137851
50	STAT5A	chr22:29137428-29138536	GM12878	blood:	n/a	chr22:29138327-29138347

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29137905-29137955	MCF-7	breast:	n/a
2	chr22:29137908-29137958	Caco-2	colon:	n/a
3	chr22:29137908-29137958	GM12891	blood:	n/a
4	chr22:29137908-29137958	MCF-7	breast:	n/a
5	chr22:29137905-29137955	SK-N-SH_RA	brain:	n/a
6	chr22:29137908-29137958	T-47D	breast:	n/a
7	chr22:29137908-29137958	NHBE	bronchial:	n/a
8	chr22:29137905-29137955	HPAEpiC	pulmonary alveolar:	n/a
9	chr22:29137905-29137955	HL-60	blood:	n/a
10	chr22:29137908-29137958	ovcar-3	ovarian:	n/a
11	chr22:29137905-29137955	U87	brain:	n/a
12	chr22:29137908-29137958	RPTEC	kidney:	n/a
13	chr22:29137908-29137958	AG09309	skin:	n/a
14	chr22:29137908-29137958	HAEpiC	amniotic membrane:	n/a
15	chr22:29137905-29137955	Jurkat	blood:	n/a
16	chr22:29137908-29137958	MCF10A-Er-Src	breast:	n/a
17	chr22:29137905-29137955	AG10803	skin:	n/a
18	chr22:29137908-29137958	SK-N-SH_RA	brain:	n/a
19	chr22:29137905-29137955	RPTEC	kidney:	n/a
20	chr22:29137905-29137955	LNCaP	prostate:	n/a
21	chr22:29137908-29137958	HEK293	kidney:	embryo
22	chr22:29137908-29137958	K562	blood:	n/a
23	chr22:29137905-29137955	MCF10A-Er-Src	breast:	n/a
24	chr22:29137905-29137955	NHDF-neo	bronchial:	n/a
25	chr22:29137905-29137955	BE2_C	brain:	n/a
26	chr22:29137905-29137955	AoSMC	blood vessel:	n/a
27	chr22:29137905-29137955	GM12878	blood:	n/a
28	chr22:29137908-29137958	NH-A	brain:	n/a
29	chr22:29137905-29137955	HMEC	breast:	n/a
30	chr22:29137905-29137955	GM06990	blood:	n/a
31	chr22:29137905-29137955	HIPEpiC	eye:	n/a
32	chr22:29137908-29137958	Hepatocyte	liver:	n/a
33	chr22:29137908-29137958	LNCaP	prostate:	n/a
34	chr22:29137908-29137958	SK-N-SH	brain:	n/a
35	chr22:29137908-29137958	HCPEpiC	choroid plexus:	n/a
36	chr22:29137905-29137955	HNPCEpiC	eye:	n/a
37	chr22:29137908-29137958	HRPEpiC	eye:	n/a
38	chr22:29137905-29137955	AG09319	gingival:	n/a
39	chr22:29137905-29137955	HRPEpiC	eye:	n/a
40	chr22:29137905-29137955	H1-hESC	embryonic stem cell:	embryo
41	chr22:29137905-29137955	GM12892	blood:	n/a
42	chr22:29137908-29137958	HNPCEpiC	eye:	n/a
43	chr22:29137905-29137955	K562	blood:	n/a
44	chr22:29137905-29137955	A549	lung:	n/a
45	chr22:29137905-29137955	PANC-1	pancreas:	n/a
46	chr22:29137905-29137955	HCPEpiC	choroid plexus:	n/a
47	chr22:29137905-29137955	Hela-S3	cervix:	n/a
48	chr22:29137905-29137955	PFSK-1	brain:	n/a
49	chr22:29137905-29137955	Hepatocyte	liver:	n/a
50	chr22:29137905-29137955	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:87350540..87351128-chr22:29137773..29138461,2	Hela-S3	cervix:
2	chr22:29137710..29139572-chr22:29196791..29200014,3	K562	blood:
3	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:
4	chr22:29134212..29140528-chr22:29167074..29172462,20	MCF-7	breast:
5	chr22:29137399..29139735-chr22:29278518..29281229,2	MCF-7	breast:
6	chr22:29135038..29141691-chr22:29167545..29172967,16	MCF-7	breast:
7	chr22:29137011..29139217-chr22:29662922..29665353,2	MCF-7	breast:
8	chr17:58153269..58156234-chr22:29137752..29139520,2	MCF-7	breast:
9	chr22:29136431..29140671-chr22:29167494..29170117,5	K562	blood:
10	chr22:29134319..29139472-chr22:29186598..29194420,8	K562	blood:
11	chr14:24681489..24683896-chr22:29136971..29139325,2	MCF-7	breast:
12	chr22:29134226..29139597-chr22:29164663..29170736,9	K562	blood:
13	chr22:29137681..29138362-chr22:29196436..29197177,2	MCF-7	breast:
14	chr22:29133437..29141650-chr22:29203240..29216422,34	MCF-7	breast:
15	chr15:67813222..67814078-chr22:29137791..29138574,2	Hela-S3	cervix:
16	chr22:29137732..29138603-chr9:127962252..127962851,2	Hela-S3	cervix:
17	chr22:29134224..29141746-chr22:29191206..29200044,27	MCF-7	breast:
18	chr22:29137882..29138609-chr6:36646475..36646984,2	Hela-S3	cervix:
19	chr22:29074345..29076106-chr22:29137826..29140000,2	K562	blood:
20	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:
21	chr22:29124921..29127441-chr22:29136398..29138709,2	K562	blood:

Variant related genes	Relation type
CHEK2	TF binding region
HSCB	TF binding region
CHEK2	CpG island
HSCB	CpG island
ENSG00000254505	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000159873	Chromatin interaction
ENSG00000272858	Chromatin interaction
ENSG00000183579	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000260456	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000270006	Chromatin interaction
ENSG00000136933	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000100263	Chromatin interaction
ENSG00000182944	Chromatin interaction
ENSG00000100154	Chromatin interaction
ENSG00000259673	Chromatin interaction
ENSG00000124762	Chromatin interaction
ENSG00000189227	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2347446	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752785	0.82[YRI][hapmap]
rs5752793	0.90[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5762769	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29136000-29139400	Active TSS	K562	blood
2	chr22:29136400-29139200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr22:29136600-29139600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr22:29136800-29138800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:29136800-29138800	Active TSS	GM12878-XiMat	blood
6	chr22:29136800-29138800	Active TSS	Hela-S3	cervix
7	chr22:29137000-29138000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:29137000-29138800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:29137000-29138800	Active TSS	HMEC	breast
10	chr22:29137000-29139400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr22:29137000-29139400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:29137200-29138800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:29137200-29138800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr22:29137200-29138800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:29137200-29138800	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr22:29137200-29138800	Active TSS	Muscle Satellite Cultured Cells	--
17	chr22:29137200-29138800	Active TSS	Brain Anterior Caudate	brain
18	chr22:29137200-29138800	Active TSS	Brain Germinal Matrix	brain
19	chr22:29137200-29138800	Active TSS	Colonic Mucosa	Colon
20	chr22:29137200-29138800	Active TSS	Fetal Brain Female	brain
21	chr22:29137200-29138800	Active TSS	Rectal Smooth Muscle	rectum
22	chr22:29137200-29139000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr22:29137200-29139000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr22:29137200-29139000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:29137200-29139000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:29137200-29139000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr22:29137200-29139000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr22:29137200-29139000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:29137200-29139000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:29137200-29139000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr22:29137200-29139000	Active TSS	Right Ventricle	heart
32	chr22:29137200-29139000	Active TSS	NHDF-Ad	bronchial
33	chr22:29137200-29139200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:29137200-29139200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:29137200-29139200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:29137200-29139200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:29137200-29139200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:29137200-29139200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr22:29137200-29139200	Active TSS	Thymus	Thymus
40	chr22:29137200-29139200	Active TSS	NHLF	lung
41	chr22:29137200-29139400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr22:29137200-29139400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:29137200-29139400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr22:29137200-29139400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:29137200-29139400	Active TSS	Fetal Muscle Trunk	muscle
46	chr22:29137200-29139600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:29137200-29139600	Active TSS	A549	lung
48	chr22:29137400-29138000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:29137400-29138600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr22:29137400-29138600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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