Variant report

Variant	rs73221363
Chromosome Location	chr12:120877696-120877697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:243)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:243 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:120877580-120877730	HA-sp	spinal cord:	n/a	n/a
2	RFX5	chr12:120877594-120877794	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr12:120877560-120877710	GM12868	blood:	n/a	n/a
4	CTCF	chr12:120877580-120877730	BJ	skin:	n/a	n/a
5	MAZ	chr12:120877484-120877874	GM12878	blood:	n/a	n/a
6	MYC	chr12:120877496-120877775	NB4	blood:	n/a	n/a
7	CTCF	chr12:120877511-120877785	MCF-7	breast:	n/a	n/a
8	RAD21	chr12:120877415-120877856	HepG2	liver:	n/a	n/a
9	CTCF	chr12:120877560-120877710	BE2_C	brain:	n/a	n/a
10	CTCF	chr12:120877620-120877770	GM12873	blood:	n/a	n/a
11	TAF7	chr12:120877435-120877927	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZBTB7A	chr12:120877504-120877816	HepG2	liver:	n/a	n/a
13	CTCF	chr12:120877440-120877901	GM12878	blood:	n/a	n/a
14	CTCF	chr12:120877600-120877750	AG10803	skin:	n/a	n/a
15	BHLHE40	chr12:120877490-120877864	GM12878	blood:	n/a	n/a
16	CTCF	chr12:120877600-120877750	GM12872	blood:	n/a	n/a
17	RAD21	chr12:120877490-120877874	IMR90	lung:	n/a	n/a
18	CTCF	chr12:120877517-120877777	GM19240	blood:	n/a	n/a
19	RAD21	chr12:120877371-120877971	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr12:120877620-120877770	GM12866	blood:	n/a	n/a
21	RAD21	chr12:120877472-120877817	A549	lung:	n/a	n/a
22	POLR2A	chr12:120877651-120877825	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr12:120877279-120878184	SK-N-SH	brain:	n/a	n/a
24	CEBPB	chr12:120877333-120877868	MCF-7	breast:	n/a	chr12:120877605-120877616
25	RUNX3	chr12:120877403-120877841	GM12878	blood:	n/a	n/a
26	CTCF	chr12:120877620-120877770	GM12874	blood:	n/a	n/a
27	CTCF	chr12:120877620-120877770	BJ	skin:	n/a	n/a
28	CTCF	chr12:120877526-120877726	HepG2	liver:	n/a	n/a
29	CTCF	chr12:120877580-120877730	GM12864	blood:	n/a	n/a
30	ARID3A	chr12:120877488-120877829	K562	blood:	n/a	n/a
31	CTCF	chr12:120877560-120877710	AG04450	lung:	n/a	n/a
32	CTCF	chr12:120877437-120877918	H1-hESC	embryonic stem cell:	n/a	n/a
33	YY1	chr12:120877528-120877779	K562	blood:	n/a	n/a
34	CTCF	chr12:120877560-120877710	HAc	cerebellar:	n/a	n/a
35	CTCF	chr12:120877343-120878019	HCT-116	colon:	n/a	n/a
36	CEBPB	chr12:120877425-120877812	Hela-S3	cervix:	n/a	chr12:120877605-120877616
37	ARID3A	chr12:120877481-120877909	HepG2	liver:	n/a	n/a
38	WRNIP1	chr12:120877492-120877840	GM12878	blood:	n/a	n/a
39	CHD2	chr12:120877504-120877812	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:120877417-120877928	K562	blood:	n/a	n/a
41	CTCF	chr12:120877520-120877786	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr12:120877536-120877768	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:120877600-120877750	HAc	cerebellar:	n/a	n/a
44	CTCF	chr12:120877488-120877795	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr12:120877600-120877750	HMEC	breast:	n/a	n/a
46	CTCF	chr12:120877465-120877821	SK-N-SH_RA	brain:	n/a	n/a
47	MAZ	chr12:120877460-120877841	K562	blood:	n/a	n/a
48	CTCF	chr12:120877580-120877730	GM12871	blood:	n/a	n/a
49	CHD2	chr12:120877516-120877772	K562	blood:	n/a	n/a
50	CTCF	chr12:120877600-120877750	AG04449	skin:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120807836..120809663-chr12:120875850..120878030,2	MCF-7	breast:
2	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
3	chr12:120875699..120878976-chr12:120901336..120905207,3	MCF-7	breast:
4	chr12:120727155..120732265-chr12:120871900..120878042,6	MCF-7	breast:
5	chr12:120877548..120880154-chr12:120905733..120907532,2	MCF-7	breast:
6	chr12:120877114..120878056-chr12:120907325..120908023,2	K562	blood:
7	chr12:120875946..120878903-chr12:121123173..121125911,2	K562	blood:
8	chr12:120804639..120805497-chr12:120877167..120877760,2	MCF-7	breast:
9	chr12:120877503..120880070-chr12:120902368..120904130,3	K562	blood:
10	chr12:120875890..120877701-chr12:120905742..120908323,3	MCF-7	breast:
11	chr12:120874293..120878054-chr12:120905643..120908923,7	K562	blood:
12	chr12:120875699..120878054-chr12:120933967..120936016,2	K562	blood:

No data

Variant related genes	Relation type
COX6A1	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11548264	1.00[ASN][1000 genomes]
rs14017	1.00[ASN][1000 genomes]
rs16950287	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431357	1.00[ASN][1000 genomes]
rs17431446	1.00[ASN][1000 genomes]
rs17487343	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17487385	1.00[ASN][1000 genomes]
rs17509145	1.00[ASN][1000 genomes]
rs17584461	1.00[ASN][1000 genomes]
rs17584503	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73221341	1.00[ASN][1000 genomes]
rs73221346	1.00[ASN][1000 genomes]
rs73221358	1.00[ASN][1000 genomes]
rs73221362	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73221368	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221372	1.00[ASN][1000 genomes]
rs73221373	1.00[ASN][1000 genomes]
rs73221378	1.00[ASN][1000 genomes]
rs73221380	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221381	1.00[ASN][1000 genomes]
rs73221382	1.00[ASN][1000 genomes]
rs73223295	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223296	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225205	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73225208	1.00[ASN][1000 genomes]
rs73225213	1.00[ASN][1000 genomes]
rs73225218	1.00[ASN][1000 genomes]
rs73225219	1.00[ASN][1000 genomes]
rs73225225	1.00[ASN][1000 genomes]
rs73225229	1.00[ASN][1000 genomes]
rs73225238	1.00[ASN][1000 genomes]
rs73225245	1.00[ASN][1000 genomes]
rs73225248	1.00[ASN][1000 genomes]
rs73225249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230303	1.00[ASN][1000 genomes]
rs73230305	1.00[ASN][1000 genomes]
rs73230306	1.00[ASN][1000 genomes]
rs73230308	1.00[ASN][1000 genomes]
rs73230313	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230314	1.00[ASN][1000 genomes]
rs73230318	1.00[ASN][1000 genomes]
rs73230322	1.00[ASN][1000 genomes]
rs73230328	1.00[ASN][1000 genomes]
rs73230332	1.00[ASN][1000 genomes]
rs73230336	1.00[ASN][1000 genomes]
rs73230339	1.00[ASN][1000 genomes]
rs73230342	1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120875200-120877800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:120875200-120877800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:120875200-120878000	Active TSS	Right Atrium	heart
4	chr12:120875600-120877800	Active TSS	GM12878-XiMat	blood
5	chr12:120876400-120878000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:120876400-120878000	Enhancers	Spleen	Spleen
7	chr12:120876400-120883400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:120876600-120877800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:120876600-120877800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:120876600-120877800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:120876600-120878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:120876600-120878600	Weak transcription	Ovary	ovary
13	chr12:120876800-120877800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:120876800-120877800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:120876800-120877800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:120876800-120877800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:120876800-120877800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:120876800-120877800	Enhancers	Placenta	Placenta
19	chr12:120876800-120877800	Genic enhancers	Fetal Stomach	stomach
20	chr12:120876800-120877800	Enhancers	Fetal Thymus	thymus
21	chr12:120876800-120877800	Enhancers	HUVEC	blood vessel
22	chr12:120876800-120877800	Enhancers	NHDF-Ad	bronchial
23	chr12:120876800-120878000	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr12:120876800-120878000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:120876800-120878000	Enhancers	Fetal Brain Male	brain
26	chr12:120876800-120878000	Genic enhancers	Fetal Muscle Leg	muscle
27	chr12:120876800-120878000	Transcr. at gene 5' and 3'	K562	blood
28	chr12:120876800-120878200	Enhancers	Primary B cells from cord blood	blood
29	chr12:120876800-120878200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:120876800-120878600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:120876800-120881800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:120876800-120883400	Weak transcription	Esophagus	oesophagus
33	chr12:120877000-120877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:120877000-120877800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:120877000-120877800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:120877000-120877800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:120877000-120877800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr12:120877000-120877800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:120877000-120877800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:120877000-120877800	Weak transcription	Fetal Lung	lung
41	chr12:120877000-120877800	Enhancers	Stomach Mucosa	stomach
42	chr12:120877000-120878000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:120877000-120878000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:120877000-120878000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr12:120877000-120878000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:120877000-120878000	Enhancers	Liver	Liver
47	chr12:120877000-120878000	Enhancers	Brain Substantia Nigra	brain
48	chr12:120877000-120878000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:120877000-120878000	Enhancers	Small Intestine	intestine
50	chr12:120877000-120878000	Enhancers	NH-A	brain

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