Variant report

Variant	rs17217810
Chromosome Location	chr12:106696890-106696891
allele	A/C
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	CREB1	chr12:106696093-106697496	HepG2	liver:	n/a	n/a
2	NR2F2	chr12:106696193-106696894	K562	blood:	n/a	n/a
3	SIN3A	chr12:106696237-106697474	H1-hESC	embryonic stem cell:	n/a	chr12:106696307-106696320 chr12:106696589-106696600 chr12:106697233-106697242
4	POLR2A	chr12:106696382-106697319	HL-60	blood:	n/a	n/a
5	TCF12	chr12:106696114-106697567	A549	lung:	n/a	n/a
6	POLR2A	chr12:106696243-106697559	Hela-S3	cervix:	n/a	n/a
7	GATA3	chr12:106696130-106697034	A549	lung:	n/a	chr12:106696813-106696821 chr12:106696503-106696512
8	TBP	chr12:106696285-106697390	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:106696193-106697484	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:106696219-106699729	MCF10A-Er-Src	breast:	n/a	n/a
11	MAX	chr12:106696130-106697249	A549	lung:	n/a	n/a
12	POLR2A	chr12:106696417-106697011	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:106696245-106697465	GM19193	blood:	n/a	n/a
14	POLR2A	chr12:106696480-106697075	MCF-7	breast:	n/a	n/a
15	POLR2A	chr12:106696486-106697450	K562	blood:	n/a	n/a
16	E2F6	chr12:106696814-106697157	K562	blood:	n/a	n/a
17	POLR2A	chr12:106696554-106696923	ProgFib	skin:	n/a	n/a
18	TBP	chr12:106696288-106697415	HepG2	liver:	n/a	n/a
19	MYC	chr12:106696266-106697448	K562	blood:	n/a	n/a
20	MAX	chr12:106696211-106697402	K562	blood:	n/a	n/a
21	HEY1	chr12:106696339-106697504	HepG2	liver:	n/a	chr12:106696523-106696538
22	UBTF	chr12:106696635-106697461	K562	blood:	n/a	n/a
23	GATA2	chr12:106696599-106697022	SH-SY5Y	brain:	n/a	chr12:106696813-106696821
24	POLR2A	chr12:106696307-106697390	Hela-S3	cervix:	n/a	n/a
25	GATA3	chr12:106696182-106696943	SK-N-SH	brain:	n/a	chr12:106696813-106696821 chr12:106696503-106696512
26	POLR2A	chr12:106696447-106697475	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:106696196-106697441	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr12:106696492-106697300	H1-hESC	embryonic stem cell:	n/a	n/a
29	RCOR1	chr12:106696377-106697180	K562	blood:	n/a	n/a
30	MAX	chr12:106696272-106697427	HepG2	liver:	n/a	n/a
31	CHD2	chr12:106695380-106697419	Hela-S3	cervix:	n/a	chr12:106696734-106696744 chr12:106696291-106696301
32	RCOR1	chr12:106695135-106697488	K562	blood:	n/a	n/a
33	MAX	chr12:106696206-106697488	MCF-7	breast:	n/a	n/a
34	YY1	chr12:106696569-106697211	H1-hESC	embryonic stem cell:	n/a	chr12:106697130-106697144 chr12:106696589-106696600
35	MXI1	chr12:106695196-106698197	SK-N-SH	brain:	n/a	n/a
36	JUND	chr12:106696147-106697377	MCF-7	breast:	n/a	chr12:106696611-106696619 chr12:106696955-106696964 chr12:106696935-106696944
37	JUND	chr12:106696189-106697456	SK-N-SH	brain:	n/a	chr12:106696611-106696619 chr12:106696955-106696964 chr12:106696935-106696944
38	HMGN3	chr12:106695428-106697353	K562	blood:	n/a	n/a
39	ZNF143	chr12:106696411-106696942	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr12:106696482-106696909	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:106695130-106701174	MCF10A-Er-Src	breast:	n/a	n/a
42	GATA3	chr12:106696203-106696892	T-47D	breast:	n/a	chr12:106696813-106696821 chr12:106696503-106696512
43	CTCF	chr12:106696860-106697090	GM12870	blood:	n/a	n/a
44	POLR2A	chr12:106696550-106696940	HepG2	liver:	n/a	n/a
45	MAZ	chr12:106695811-106697488	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:106696322-106696919	Raji	blood:	n/a	n/a
47	SIN3AK20	chr12:106695325-106697614	MCF-7	breast:	n/a	n/a
48	SP1	chr12:106696888-106697475	H1-hESC	embryonic stem cell:	n/a	chr12:106697203-106697216 chr12:106697247-106697256 chr12:106697070-106697084 chr12:106696925-106696939 chr12:106697246-106697258 chr12:106697199-106697211 chr12:106697118-106697132 chr12:106697200-106697214 chr12:106697199-106697210 chr12:106697248-106697257 chr12:106697243-106697257 chr12:106697201-106697210 chr12:106697246-106697258
49	MAZ	chr12:106695193-106697500	K562	blood:	n/a	n/a
50	POLR2A	chr12:106696412-106696983	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:106693946..106698218-chr12:106750404..106754111,7	MCF-7	breast:
2	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
3	chr12:106693434..106696954-chr12:106697519..106701215,4	MCF-7	breast:
4	chr12:106695715..106698780-chr12:106751795..106753760,4	K562	blood:
5	chr12:106694726..106698780-chr12:106749876..106753760,9	K562	blood:
6	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:

Variant related genes	Relation type
TCP11L2	TF binding region
ENSG00000166046	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000013503	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12831519	0.93[YRI][hapmap]
rs17217845	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs17218455	1.00[YRI][hapmap];0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 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	chr12:106695200-106697600	Active TSS	Esophagus	oesophagus
2	chr12:106695400-106697800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:106695400-106697800	Active TSS	Psoas Muscle	Psoas
4	chr12:106695400-106697800	Active TSS	Right Atrium	heart
5	chr12:106695400-106698200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:106695600-106697000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:106695600-106697200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:106695600-106697200	Active TSS	Fetal Stomach	stomach
9	chr12:106695600-106697400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:106695600-106697400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:106695600-106697400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:106695600-106697400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:106695600-106697400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:106695600-106697600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:106695600-106697600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr12:106695600-106697600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:106695600-106697600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:106695600-106697600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:106695600-106697600	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr12:106695600-106697600	Active TSS	Fetal Kidney	kidney
21	chr12:106695600-106697600	Active TSS	A549	lung
22	chr12:106695600-106697800	Active TSS	Ovary	ovary
23	chr12:106695600-106698000	Active TSS	Aorta	Aorta
24	chr12:106695600-106698200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:106695800-106697200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr12:106695800-106697200	Active TSS	Primary monocytes fromperipheralblood	blood
27	chr12:106695800-106697200	Active TSS	Primary B cells from peripheral blood	blood
28	chr12:106695800-106697200	Active TSS	Fetal Brain Female	brain
29	chr12:106695800-106697200	Active TSS	Placenta Amnion	Placenta Amnion
30	chr12:106695800-106697200	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:106695800-106697400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:106695800-106697400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:106695800-106697400	Active TSS	Small Intestine	intestine
34	chr12:106695800-106697400	Bivalent/Poised TSS	HepG2	liver
35	chr12:106695800-106697600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:106695800-106697600	Active TSS	Primary T cells from cord blood	blood
37	chr12:106695800-106697600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr12:106695800-106697600	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr12:106695800-106697600	Active TSS	Brain Hippocampus Middle	brain
40	chr12:106695800-106697600	Active TSS	Brain Substantia Nigra	brain
41	chr12:106695800-106697600	Active TSS	Colon Smooth Muscle	Colon
42	chr12:106695800-106697600	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:106695800-106697600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr12:106695800-106697800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:106695800-106697800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr12:106696000-106697000	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr12:106696000-106697000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:106696000-106697000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr12:106696000-106697000	Active TSS	Colonic Mucosa	Colon
50	chr12:106696000-106697000	Active TSS	Fetal Brain Male	brain

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