Variant report

Variant	rs55772322
Chromosome Location	chr2:98280055-98280056
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	POLR2A	chr2:98278939-98281047	HepG2	liver:	n/a	n/a
2	EBF1	chr2:98279015-98280866	GM12878	blood:	n/a	chr2:98279203-98279214 chr2:98279203-98279216
3	IRF1	chr2:98279227-98281284	K562	blood:	n/a	chr2:98280508-98280522 chr2:98279778-98279792 chr2:98280584-98280598 chr2:98280523-98280532
4	TAF1	chr2:98279804-98280058	GM12878	blood:	n/a	n/a
5	TBP	chr2:98279760-98281425	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:98279079-98281239	GM19099	blood:	n/a	n/a
7	TBP	chr2:98279301-98280154	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:98279158-98280381	K562	blood:	n/a	n/a
9	POLR2A	chr2:98279814-98280949	A549	lung:	n/a	n/a
10	POLR2A	chr2:98279822-98281088	HCT-116	colon:	n/a	n/a
11	CHD2	chr2:98279606-98280073	K562	blood:	n/a	n/a
12	POLR2A	chr2:98277387-98280171	K562	blood:	n/a	n/a
13	POLR2A	chr2:98279428-98281127	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:98279422-98280907	HepG2	liver:	n/a	n/a
15	RELA	chr2:98279075-98281449	GM15510	blood:	n/a	n/a
16	POLR2A	chr2:98279175-98281003	GM15510	blood:	n/a	n/a
17	POLR2A	chr2:98278878-98281363	K562	blood:	n/a	n/a
18	TAF1	chr2:98279645-98280170	PFSK-1	brain:	n/a	n/a
19	YY1	chr2:98279157-98280872	GM12892	blood:	n/a	chr2:98280585-98280594 chr2:98280356-98280370 chr2:98280512-98280526
20	POLR2A	chr2:98277968-98281074	GM12892	blood:	n/a	n/a
21	JUN	chr2:98279205-98280225	K562	blood:	n/a	chr2:98279470-98279477 chr2:98279375-98279383 chr2:98279468-98279477 chr2:98279373-98279384 chr2:98279468-98279478 chr2:98279468-98279478
22	POLR2A	chr2:98279086-98281133	GM18951	blood:	n/a	n/a
23	MYC	chr2:98279116-98281408	NB4	blood:	n/a	chr2:98280224-98280234 chr2:98279386-98279396
24	MAZ	chr2:98279123-98281339	K562	blood:	n/a	chr2:98280224-98280234
25	HA-E2F1	chr2:98279479-98281376	MCF-7	breast:	n/a	chr2:98280412-98280424 chr2:98280708-98280719 chr2:98280523-98280532 chr2:98280224-98280233 chr2:98280585-98280594 chr2:98280361-98280370
26	MAZ	chr2:98279171-98281191	GM12878	blood:	n/a	chr2:98280224-98280234
27	PBX3	chr2:98279846-98280188	GM12878	blood:	n/a	n/a
28	NR2F2	chr2:98279126-98280143	K562	blood:	n/a	n/a
29	ZBTB7A	chr2:98279870-98280748	K562	blood:	n/a	n/a
30	YY1	chr2:98279581-98281193	GM12878	blood:	n/a	chr2:98280585-98280594 chr2:98280356-98280370 chr2:98280512-98280526
31	JUND	chr2:98279156-98281542	K562	blood:	n/a	chr2:98280407-98280416 chr2:98279467-98279478 chr2:98279470-98279477 chr2:98280411-98280420 chr2:98279375-98279383 chr2:98279468-98279477 chr2:98279373-98279384 chr2:98279468-98279478 chr2:98279468-98279478 chr2:98280223-98280232
32	RFX5	chr2:98279178-98281483	Hela-S3	cervix:	n/a	chr2:98280645-98280659
33	MAX	chr2:98279775-98281022	A549	lung:	n/a	chr2:98280224-98280234
34	POLR2A	chr2:98279226-98281507	K562	blood:	n/a	n/a
35	BHLHE40	chr2:98279195-98281292	K562	blood:	n/a	chr2:98280437-98280453 chr2:98280556-98280572
36	POLR2A	chr2:98278131-98281374	Hela-S3	cervix:	n/a	n/a
37	MAX	chr2:98279778-98281040	H1-hESC	embryonic stem cell:	n/a	chr2:98280224-98280234
38	SIN3AK20	chr2:98279846-98280231	K562	blood:	n/a	n/a
39	POLR2A	chr2:98279093-98281083	HUVEC	blood vessel:	n/a	n/a
40	TBP	chr2:98279169-98281431	K562	blood:	n/a	n/a
41	RFX5	chr2:98279560-98281207	HepG2	liver:	n/a	chr2:98280645-98280659
42	POLR2A	chr2:98279459-98280933	Gliobla	brain:	n/a	n/a
43	POLR2A	chr2:98279096-98281055	HUVEC	blood vessel:	n/a	n/a
44	STAT5A	chr2:98279131-98280325	GM12878	blood:	n/a	chr2:98279469-98279478
45	MYC	chr2:98279854-98281217	MCF10A-Er-Src	breast:	n/a	chr2:98280224-98280234
46	MAX	chr2:98279101-98281159	K562	blood:	n/a	chr2:98280224-98280234 chr2:98279386-98279396
47	FOXA1	chr2:98279463-98280273	HepG2	liver:	n/a	n/a
48	CTCF	chr2:98279980-98280130	HCPEpiC	choroid plexus:	n/a	n/a
49	POLR2A	chr2:98279787-98281060	MCF-7	breast:	n/a	n/a
50	HCFC1	chr2:98278895-98281591	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98280029-98280079	HMEC	breast:	n/a
2	chr2:98280029-98280079	GM12891	blood:	n/a
3	chr2:98280029-98280079	BE2_C	brain:	n/a
4	chr2:98280029-98280079	SK-N-MC	brain:	n/a
5	chr2:98280029-98280079	IMR90	lung:	fetal
6	chr2:98280029-98280079	NT2-D1	testis:	n/a
7	chr2:98280029-98280079	CMK	blood:	n/a
8	chr2:98280029-98280079	NHBE	bronchial:	n/a
9	chr2:98280029-98280079	GM12892	blood:	n/a
10	chr2:98280029-98280079	HCPEpiC	choroid plexus:	n/a
11	chr2:98280029-98280079	HepG2	liver:	n/a
12	chr2:98280029-98280079	H1-hESC	embryonic stem cell:	embryo
13	chr2:98280029-98280079	T-47D	breast:	n/a
14	chr2:98280029-98280079	GM06990	blood:	n/a
15	chr2:98280029-98280079	HAEpiC	amniotic membrane:	n/a
16	chr2:98280029-98280079	HUVEC	blood vessel:	n/a
17	chr2:98280029-98280079	HCF	heart:	n/a
18	chr2:98280029-98280079	SK-N-SH	brain:	n/a
19	chr2:98280029-98280079	HCM	heart:	n/a
20	chr2:98280029-98280079	PrEC	prostate:	n/a
21	chr2:98280029-98280079	MCF10A-Er-Src	breast:	n/a
22	chr2:98280029-98280079	BJ	skin:	n/a
23	chr2:98280029-98280079	GM19239	blood:	n/a
24	chr2:98280029-98280079	HRE	kidney:	n/a
25	chr2:98280029-98280079	PFSK-1	brain:	n/a
26	chr2:98280029-98280079	ProgFib	skin:	n/a
27	chr2:98280029-98280079	Jurkat	blood:	n/a
28	chr2:98280029-98280079	ECC-1	luminal epithelium:	n/a
29	chr2:98280029-98280079	GM12878	blood:	n/a
30	chr2:98280029-98280079	AG04450	lung:	fetal
31	chr2:98280029-98280079	AoSMC	blood vessel:	n/a
32	chr2:98280029-98280079	AG09319	gingival:	n/a
33	chr2:98280029-98280079	MCF-7	breast:	n/a
34	chr2:98280029-98280079	SK-N-SH_RA	brain:	n/a
35	chr2:98280029-98280079	HCT-116	colon:	n/a
36	chr2:98280029-98280079	SAEC	small airway:	n/a
37	chr2:98280029-98280079	HEEpiC	esophagus:	n/a
38	chr2:98280029-98280079	NH-A	brain:	n/a
39	chr2:98280029-98280079	Caco-2	colon:	n/a
40	chr2:98280029-98280079	A549	lung:	n/a
41	chr2:98280029-98280079	NHDF-neo	bronchial:	n/a
42	chr2:98280029-98280079	AG09309	skin:	n/a
43	chr2:98280029-98280079	NB4	blood:	n/a
44	chr2:98280029-98280079	HRPEpiC	eye:	n/a
45	chr2:98280029-98280079	AG04449	skin:	fetal
46	chr2:98280029-98280079	RPTEC	kidney:	n/a
47	chr2:98280029-98280079	K562	blood:	n/a
48	chr2:98280029-98280079	LNCaP	prostate:	n/a
49	chr2:98280029-98280079	SKMC	muscle:	n/a
50	chr2:98280029-98280079	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr2:98205848..98207835-chr2:98279004..98283186,3	MCF-7	breast:
2	chr2:98278220..98280235-chr2:98364964..98367550,2	K562	blood:
3	chr2:98206110..98207769-chr2:98279652..98281540,2	K562	blood:
4	chr2:98279098..98281561-chr2:98304916..98307735,3	MCF-7	breast:
5	chr2:98279310..98282281-chr2:98310556..98313961,3	MCF-7	breast:
6	chr2:98279912..98282586-chr2:98290130..98292098,3	K562	blood:
7	chr1:205512157..205513071-chr2:98279668..98280363,2	Hela-S3	cervix:
8	chr2:98279581..98281603-chr2:98351078..98353477,2	K562	blood:
9	chr16:30546029..30546868-chr2:98279946..98280837,2	Hela-S3	cervix:
10	chr2:98279825..98280513-chr7:32982049..32982668,2	Hela-S3	cervix:
11	chr2:98280019..98280550-chr5:43556723..43557699,2	Hela-S3	cervix:
12	chr2:98278667..98281978-chr2:98283382..98286512,4	K562	blood:
13	chr17:45400778..45401757-chr2:98279614..98280188,2	Hela-S3	cervix:
14	chr2:98278665..98281371-chr2:98305087..98308005,4	MCF-7	breast:
15	chr2:98277609..98280060-chr2:98302722..98304227,2	MCF-7	breast:
16	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:

Variant related genes	Relation type
ACTR1B	TF binding region
LINC01125	TF binding region
ACTR1B	CpG island
LINC01125	CpG island
ENSG00000169955	Chromatin interaction
ENSG00000115085	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000196912	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction
ENSG00000205763	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1020396	0.88[ASN][1000 genomes]
rs10496323	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123861	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11547232	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11680855	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12994966	0.91[ASN][1000 genomes]
rs12997695	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13000505	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13003963	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13027550	0.80[AMR][1000 genomes]
rs13034349	0.91[ASN][1000 genomes]
rs1463173	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1463174	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1800649	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276645	0.86[ASN][1000 genomes]
rs35211079	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56281704	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62157580	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv3435324	chr2:98279520-98282118	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs55772322	ANKRD36B	cis	Artery Tibial	GTEx
rs55772322	AC017099.3	cis	Muscle Skeletal	GTEx
rs55772322	ANKRD36B	cis	Stomach	GTEx
rs55772322	ANKRD36B	cis	Nerve Tibial	GTEx
rs55772322	ANKRD36B	cis	Adipose Subcutaneous	GTEx
rs55772322	ANKRD36B	cis	Thyroid	GTEx
rs55772322	ANKRD36B	cis	Skin Sun Exposed Lower leg	GTEx
rs55772322	ANKRD36B	cis	Esophagus Mucosa	GTEx
rs55772322	ANKRD36B	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98278400-98280200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:98278600-98281600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:98278800-98281400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:98279000-98280200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:98279000-98281400	Active TSS	Ovary	ovary
6	chr2:98279000-98281400	Active TSS	Psoas Muscle	Psoas
7	chr2:98279200-98281200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:98279200-98281200	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr2:98279200-98281200	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr2:98279200-98281400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:98279200-98281400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:98279200-98281400	Active TSS	Left Ventricle	heart
13	chr2:98279200-98281400	Active TSS	GM12878-XiMat	blood
14	chr2:98279200-98281400	Active TSS	NHLF	lung
15	chr2:98279200-98281600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:98279200-98281600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:98279200-98281800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:98279200-98281800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:98279200-98281800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:98279400-98280600	Bivalent/Poised TSS	HepG2	liver
21	chr2:98279400-98281200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:98279400-98281200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr2:98279400-98281200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:98279400-98281200	Active TSS	Aorta	Aorta
25	chr2:98279400-98281200	Active TSS	Colon Smooth Muscle	Colon
26	chr2:98279400-98281400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:98279400-98281400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:98279400-98281400	Active TSS	Lung	lung
29	chr2:98279400-98281400	Active TSS	NHDF-Ad	bronchial
30	chr2:98279400-98281600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr2:98279400-98281600	Active TSS	Right Ventricle	heart
32	chr2:98279400-98281600	Active TSS	HSMM	muscle
33	chr2:98279400-98281800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:98279400-98281800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:98279400-98282000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:98279600-98280200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:98279600-98280400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:98279600-98281000	Active TSS	Gastric	stomach
39	chr2:98279600-98281000	Active TSS	Spleen	Spleen
40	chr2:98279600-98281200	Active TSS	Brain Hippocampus Middle	brain
41	chr2:98279600-98281200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:98279600-98281200	Active TSS	Small Intestine	intestine
43	chr2:98279600-98281400	Active TSS	Esophagus	oesophagus
44	chr2:98279600-98281400	Active TSS	Fetal Intestine Large	intestine
45	chr2:98279600-98281400	Active TSS	Placenta Amnion	Placenta Amnion
46	chr2:98279600-98281400	Active TSS	A549	lung
47	chr2:98279600-98281600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:98279600-98281600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr2:98279600-98281600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:98279600-98281600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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