Variant report

Variant	rs12328697
Chromosome Location	chr2:205410066-205410067
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	POLR2A	chr2:205409696-205410519	HUVEC	blood vessel:	n/a	n/a
2	RAD21	chr2:205409866-205410416	H1-hESC	embryonic stem cell:	n/a	chr2:205409867-205409881
3	NR2F2	chr2:205409361-205410782	MCF-7	breast:	n/a	chr2:205409639-205409654
4	MAX	chr2:205409548-205411099	H1-hESC	embryonic stem cell:	n/a	n/a
5	RCOR1	chr2:205409638-205410339	Hela-S3	cervix:	n/a	n/a
6	E2F6	chr2:205409443-205411309	K562	blood:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
7	JUND	chr2:205410037-205410317	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:205409750-205410254	Hela-S3	cervix:	n/a	n/a
9	E2F6	chr2:205409740-205410362	A549	lung:	n/a	chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
10	TFAP2C	chr2:205409334-205410758	Hela-S3	cervix:	n/a	chr2:205410583-205410598 chr2:205409789-205409804
11	POLR2A	chr2:205409783-205410618	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr2:205409886-205410266	H1-hESC	embryonic stem cell:	n/a	n/a
13	UBTF	chr2:205409609-205410664	K562	blood:	n/a	n/a
14	MAX	chr2:205409547-205410438	HCT-116	colon:	n/a	n/a
15	POLR2A	chr2:205410007-205410424	PFSK-1	brain:	n/a	n/a
16	CEBPB	chr2:205409443-205410423	Hela-S3	cervix:	n/a	n/a
17	TAF1	chr2:205409946-205410164	SK-N-SH	brain:	n/a	n/a
18	MAX	chr2:205409598-205410363	K562	blood:	n/a	n/a
19	POLR2A	chr2:205409614-205411156	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr2:205409496-205410390	MCF-7	breast:	n/a	n/a
21	MAX	chr2:205409428-205411143	MCF-7	breast:	n/a	n/a
22	USF1	chr2:205409838-205410382	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr2:205409580-205410938	K562	blood:	n/a	n/a
24	POLR2A	chr2:205409807-205410561	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr2:205409657-205410591	ECC-1	luminal epithelium:	n/a	n/a
26	CTBP2	chr2:205409740-205411060	H1-hESC	embryonic stem cell:	n/a	n/a
27	TBP	chr2:205409778-205410240	K562	blood:	n/a	n/a
28	POLR2A	chr2:205409741-205410582	Gliobla	brain:	n/a	n/a
29	MAZ	chr2:205409831-205410129	HepG2	liver:	n/a	n/a
30	YY1	chr2:205409833-205410390	ECC-1	luminal epithelium:	n/a	chr2:205410207-205410221
31	TAF1	chr2:205409876-205410321	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr2:205409910-205410421	A549	lung:	n/a	n/a
33	KAP1	chr2:205409352-205410187	HEK293	kidney:	n/a	n/a
34	MAX	chr2:205409959-205410183	K562	blood:	n/a	n/a
35	MAX	chr2:205409646-205410447	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr2:205409778-205410407	A549	lung:	n/a	n/a
37	YY1	chr2:205409987-205410466	HepG2	liver:	n/a	chr2:205410207-205410221
38	HMGN3	chr2:205409930-205410979	K562	blood:	n/a	n/a
39	REST	chr2:205409823-205410125	A549	lung:	n/a	n/a
40	CHD2	chr2:205409564-205410305	Hela-S3	cervix:	n/a	n/a
41	MYC	chr2:205409803-205410982	MCF10A-Er-Src	breast:	n/a	n/a
42	HA-E2F1	chr2:205409291-205411382	MCF-7	breast:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226
43	EGR1	chr2:205409915-205410373	H1-hESC	embryonic stem cell:	n/a	chr2:205410214-205410223
44	TCF12	chr2:205409488-205410442	A549	lung:	n/a	chr2:205409606-205409615
45	TCF12	chr2:205410002-205410263	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr2:205409948-205410220	K562	blood:	n/a	n/a
47	RAD21	chr2:205410018-205410362	H1-hESC	embryonic stem cell:	n/a	n/a
48	EP300	chr2:205409670-205410607	ECC-1	luminal epithelium:	n/a	chr2:205410216-205410225
49	ZNF263	chr2:205409673-205411588	HEK293-T-REx	kidney:	n/a	n/a
50	MAX	chr2:205409470-205411022	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205406485..205408306-chr2:205408736..205410499,2	K562	blood:
2	chr2:205409966..205412745-chr6:70504641..70507004,2	MCF-7	breast:

Variant related genes	Relation type
PARD3B	TF binding region
ENSG00000168216	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10166278	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10175056	1.00[EUR][1000 genomes]
rs10177386	1.00[YRI][hapmap]
rs10184804	1.00[EUR][1000 genomes]
rs10184836	1.00[EUR][1000 genomes]
rs10190012	1.00[EUR][1000 genomes]
rs10190374	1.00[EUR][1000 genomes]
rs10194617	1.00[EUR][1000 genomes]
rs10199785	1.00[EUR][1000 genomes]
rs10199977	1.00[EUR][1000 genomes]
rs10205679	1.00[EUR][1000 genomes]
rs11899900	1.00[EUR][1000 genomes]
rs11904034	1.00[EUR][1000 genomes]
rs11904064	1.00[EUR][1000 genomes]
rs13390481	1.00[EUR][1000 genomes]
rs13397135	1.00[EUR][1000 genomes]
rs13397282	1.00[EUR][1000 genomes]
rs13399833	1.00[EUR][1000 genomes]
rs13399965	1.00[EUR][1000 genomes]
rs13400246	1.00[EUR][1000 genomes]
rs13407064	1.00[EUR][1000 genomes]
rs13410864	1.00[EUR][1000 genomes]
rs13412566	1.00[EUR][1000 genomes]
rs13427607	1.00[EUR][1000 genomes]
rs13428250	1.00[EUR][1000 genomes]
rs2197690	1.00[EUR][1000 genomes]
rs4645000	1.00[EUR][1000 genomes]
rs6741392	1.00[EUR][1000 genomes]
rs6742942	1.00[EUR][1000 genomes]
rs73057258	1.00[EUR][1000 genomes]
rs73057269	1.00[EUR][1000 genomes]
rs73057270	1.00[EUR][1000 genomes]
rs73984226	1.00[EUR][1000 genomes]
rs9288355	1.00[EUR][1000 genomes]
rs9973966	1.00[EUR][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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3422948	chr2:205409232-205412080	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205409200-205410800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr2:205409200-205411000	Active TSS	Brain Substantia Nigra	brain
3	chr2:205409200-205411400	Active TSS	Colonic Mucosa	Colon
4	chr2:205409400-205410200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:205409400-205410200	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr2:205409400-205410800	Active TSS	Brain Cingulate Gyrus	brain
7	chr2:205409400-205410800	Active TSS	NH-A	brain
8	chr2:205409400-205411000	Active TSS	Brain Hippocampus Middle	brain
9	chr2:205409400-205411000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:205409400-205411200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:205409400-205411200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr2:205409400-205411800	Active TSS	Ovary	ovary
13	chr2:205409400-205412200	Active TSS	Right Atrium	heart
14	chr2:205409600-205410200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
15	chr2:205409600-205410800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:205409600-205410800	Active TSS	Brain Anterior Caudate	brain
17	chr2:205409600-205410800	Active TSS	Lung	lung
18	chr2:205409600-205410800	Active TSS	Right Ventricle	heart
19	chr2:205409600-205410800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr2:205409600-205411000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:205409600-205411000	Active TSS	Left Ventricle	heart
22	chr2:205409600-205411000	Active TSS	Psoas Muscle	Psoas
23	chr2:205409600-205411000	Bivalent/Poised TSS	Thymus	Thymus
24	chr2:205409600-205411000	Active TSS	A549	lung
25	chr2:205409600-205411200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:205409600-205411200	Active TSS	Gastric	stomach
27	chr2:205409600-205411400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:205409600-205411400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:205409600-205411400	Active TSS	Fetal Intestine Large	intestine
30	chr2:205409600-205411400	Active TSS	Small Intestine	intestine
31	chr2:205409600-205411800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr2:205409600-205412000	Active TSS	Aorta	Aorta
33	chr2:205409600-205412400	Active TSS	Fetal Kidney	kidney
34	chr2:205409800-205410200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:205409800-205410200	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
36	chr2:205409800-205410200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:205409800-205410600	Active TSS	Spleen	Spleen
38	chr2:205409800-205410800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:205409800-205410800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:205409800-205410800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:205409800-205410800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr2:205409800-205410800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:205409800-205410800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr2:205409800-205410800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:205409800-205410800	Active TSS	Fetal Muscle Leg	muscle
46	chr2:205409800-205410800	Active TSS	Fetal Stomach	stomach
47	chr2:205409800-205410800	Active TSS	K562	blood
48	chr2:205409800-205411000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:205409800-205411000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:205409800-205411000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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