Variant report

Variant	rs705703
Chromosome Location	chr12:56391486-56391487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:61)
Chromatin interactive
region (count:33)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56390694-56391494	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:56390639-56391554	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:56390599-56391893	H1-neurons	neurons:	n/a	n/a
4	RFX5	chr12:56389864-56391654	IMR90	lung:	n/a	chr12:56390916-56390931 chr12:56391640-56391648 chr12:56390917-56390931 chr12:56390915-56390929
5	POLR2A	chr12:56390495-56391492	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr12:56390540-56391706	HL-60	blood:	n/a	n/a
7	POLR2A	chr12:56390459-56391861	Hela-S3	cervix:	n/a	n/a
8	TCF12	chr12:56390532-56391711	ECC-1	luminal epithelium:	n/a	chr12:56390723-56390733
9	MAFK	chr12:56390597-56391494	Hela-S3	cervix:	n/a	n/a
10	RFX5	chr12:56389866-56391841	SK-N-SH	brain:	n/a	chr12:56390916-56390931 chr12:56391640-56391648 chr12:56390917-56390931 chr12:56390915-56390929
11	POLR2A	chr12:56390452-56391780	H1-hESC	embryonic stem cell:	n/a	n/a
12	RFX5	chr12:56389911-56391486	Hela-S3	cervix:	n/a	chr12:56390916-56390931 chr12:56390917-56390931 chr12:56390915-56390929
13	RCOR1	chr12:56390590-56391513	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:56389875-56391712	K562	blood:	n/a	n/a
15	POLR2A	chr12:56390628-56391552	ProgFib	skin:	n/a	n/a
16	POLR2A	chr12:56390578-56391545	GM12892	blood:	n/a	n/a
17	POLR2A	chr12:56390709-56391571	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:56390018-56391497	U87	brain:	n/a	n/a
19	CTCF	chr12:56391420-56391570	HepG2	liver:	n/a	n/a
20	MTA3	chr12:56389953-56391497	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:56390543-56391653	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr12:56390208-56391586	K562	blood:	n/a	n/a
23	POLR2A	chr12:56390922-56391574	H1-hESC	embryonic stem cell:	n/a	n/a
24	BCL3	chr12:56389804-56391558	A549	lung:	n/a	chr12:56391177-56391186 chr12:56391172-56391185
25	ZEB1	chr12:56391131-56391614	GM12878	blood:	n/a	n/a
26	TAF1	chr12:56390470-56391603	ECC-1	luminal epithelium:	n/a	n/a
27	SIN3AK20	chr12:56390680-56391534	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:56390638-56391555	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:56390465-56391610	GM12878	blood:	n/a	n/a
30	SIN3A	chr12:56390560-56391498	H1-hESC	embryonic stem cell:	n/a	chr12:56391164-56391177 chr12:56391048-56391061
31	POLR2A	chr12:56390740-56391712	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr12:56390725-56391593	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr12:56390654-56391576	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr12:56390503-56391636	GM12878	blood:	n/a	n/a
35	REST	chr12:56390512-56391635	H1-neurons	neurons:	n/a	chr12:56391051-56391064
36	POLR2A	chr12:56390475-56391757	HL-60	blood:	n/a	n/a
37	POLR2A	chr12:56390561-56391687	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr12:56390555-56391580	GM12891	blood:	n/a	n/a
39	POLR2A	chr12:56390085-56391572	MCF-7	breast:	n/a	n/a
40	TEAD4	chr12:56389873-56391506	K562	blood:	n/a	n/a
41	WRNIP1	chr12:56391400-56391558	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:56390574-56391500	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr12:56389952-56391798	HepG2	liver:	n/a	n/a
44	MYBL2	chr12:56390360-56391494	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:56390407-56391595	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr12:56390653-56391562	H1-hESC	embryonic stem cell:	n/a	n/a
47	RUNX3	chr12:56390937-56391594	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:56390069-56391503	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:56390450-56391533	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr12:56390547-56391743	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56391451-56391501	GM12891	blood:	n/a
2	chr12:56391451-56391501	GM19239	blood:	n/a
3	chr12:56391451-56391501	HNPCEpiC	eye:	n/a
4	chr12:56391451-56391501	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:56391451-56391501	ovcar-3	ovarian:	n/a
6	chr12:56391451-56391501	A549	lung:	n/a
7	chr12:56391451-56391501	HAEpiC	amniotic membrane:	n/a
8	chr12:56391451-56391501	U87	brain:	n/a
9	chr12:56391451-56391501	HEEpiC	esophagus:	n/a
10	chr12:56391451-56391501	BE2_C	brain:	n/a
11	chr12:56391451-56391501	HUVEC	blood vessel:	n/a
12	chr12:56391451-56391501	HCM	heart:	n/a
13	chr12:56391451-56391501	MCF-7	breast:	n/a
14	chr12:56391451-56391501	PFSK-1	brain:	n/a
15	chr12:56391451-56391501	SK-N-SH	brain:	n/a
16	chr12:56391451-56391501	AG10803	skin:	n/a
17	chr12:56391451-56391501	BJ	skin:	n/a
18	chr12:56391451-56391501	AoSMC	blood vessel:	n/a
19	chr12:56391451-56391501	NB4	blood:	n/a
20	chr12:56391451-56391501	NHBE	bronchial:	n/a
21	chr12:56391451-56391501	CMK	blood:	n/a
22	chr12:56391451-56391501	PrEC	prostate:	n/a
23	chr12:56391451-56391501	SK-N-MC	brain:	n/a
24	chr12:56391451-56391501	SKMC	muscle:	n/a
25	chr12:56391451-56391501	HCPEpiC	choroid plexus:	n/a
26	chr12:56391451-56391501	HMEC	breast:	n/a
27	chr12:56391451-56391501	IMR90	lung:	fetal
28	chr12:56391451-56391501	ECC-1	luminal epithelium:	n/a
29	chr12:56391451-56391501	AG09309	skin:	n/a
30	chr12:56391451-56391501	HL-60	blood:	n/a
31	chr12:56391451-56391501	SAEC	small airway:	n/a
32	chr12:56391451-56391501	HepG2	liver:	n/a
33	chr12:56391451-56391501	RPTEC	kidney:	n/a
34	chr12:56391451-56391501	HIPEpiC	eye:	n/a
35	chr12:56391451-56391501	SK-N-SH_RA	brain:	n/a
36	chr12:56391451-56391501	Hela-S3	cervix:	n/a
37	chr12:56391451-56391501	NH-A	brain:	n/a
38	chr12:56391451-56391501	AG04450	lung:	fetal
39	chr12:56391451-56391501	PANC-1	pancreas:	n/a
40	chr12:56391451-56391501	T-47D	breast:	n/a
41	chr12:56391451-56391501	NT2-D1	testis:	n/a
42	chr12:56391451-56391501	K562	blood:	n/a
43	chr12:56391451-56391501	GM12878	blood:	n/a
44	chr12:56391451-56391501	GM06990	blood:	n/a
45	chr12:56391451-56391501	H1-hESC	embryonic stem cell:	embryo
46	chr12:56391451-56391501	AG09319	gingival:	n/a
47	chr12:56391451-56391501	NHDF-neo	bronchial:	n/a
48	chr12:56391451-56391501	HEK293	kidney:	embryo
49	chr12:56391451-56391501	LNCaP	prostate:	n/a
50	chr12:56391451-56391501	HCT-116	colon:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56384934..56392097-chr12:56507991..56512680,9	MCF-7	breast:
2	chr12:56365739..56372949-chr12:56384756..56392202,12	MCF-7	breast:
3	chr12:56365099..56368915-chr12:56389537..56395397,5	K562	blood:
4	chr12:56318993..56322413-chr12:56389425..56391488,3	K562	blood:
5	chr12:56391052..56392634-chr12:56475715..56477967,2	MCF-7	breast:
6	chr12:56389364..56393818-chr12:56396293..56409099,19	MCF-7	breast:
7	chr12:56221380..56224964-chr12:56389518..56391626,4	MCF-7	breast:
8	chr12:56386715..56395273-chr12:56398367..56404356,15	MCF-7	breast:
9	chr12:56325939..56329017-chr12:56389529..56391723,3	K562	blood:
10	chr12:56389319..56393039-chr12:56433877..56439169,10	K562	blood:
11	chr12:56390533..56392803-chr12:56508864..56512540,5	K562	blood:
12	chr12:56384784..56387430-chr12:56389499..56392081,3	MCF-7	breast:
13	chr12:56390809..56392348-chr12:56401235..56403925,2	K562	blood:
14	chr12:56386022..56392601-chr12:56434180..56439537,11	MCF-7	breast:
15	chr12:56388556..56391684-chr12:56495441..56499573,3	K562	blood:
16	chr12:49658578..49659245-chr12:56391035..56391630,2	Hela-S3	cervix:
17	chr12:56391225..56393452-chr12:56393825..56395799,2	K562	blood:
18	chr12:56390277..56392434-chr12:56414994..56416679,2	K562	blood:
19	chr12:56222339..56223963-chr12:56389750..56392232,2	MCF-7	breast:
20	chr12:56387772..56393921-chr12:56435042..56439277,13	MCF-7	breast:
21	chr12:56390252..56392502-chr12:56472754..56475150,2	MCF-7	breast:
22	chr12:56326218..56328799-chr12:56389598..56392484,2	K562	blood:
23	chr12:56383457..56387356-chr12:56388448..56393059,5	MCF-7	breast:
24	chr12:56209991..56213836-chr12:56388557..56392258,6	MCF-7	breast:
25	chr12:56135587..56138255-chr12:56389747..56392284,4	K562	blood:
26	chr12:56135587..56137703-chr12:56389429..56392012,4	K562	blood:
27	chr12:56387978..56391684-chr12:56496583..56499573,3	K562	blood:
28	chr12:56319711..56323865-chr12:56387409..56394085,7	MCF-7	breast:
29	chr12:56388289..56393996-chr12:56394860..56404076,14	K562	blood:
30	chr12:56388988..56394527-chr12:56433794..56442585,20	K562	blood:
31	chr12:56389168..56393063-chr12:56410604..56414258,3	K562	blood:
32	chr12:56364281..56367939-chr12:56391027..56393496,3	K562	blood:
33	chr12:56390988..56392833-chr12:56509534..56511821,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB5B-2	chr12:56391399-56391507	NONHSAT028735
2	lnc-RAB5B-2	chr12:56391399-56391507	NONHSAT028733

No data

Variant related genes	Relation type
SUOX	TF binding region
SUOX	CpG island
ENSG00000065361	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000255990	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000170515	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1274298	1.00[ASN][1000 genomes]
rs12810816	1.00[ASN][1000 genomes]
rs1290898	1.00[ASN][1000 genomes]
rs1689513	1.00[ASW][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17118313	1.00[ASN][1000 genomes]
rs17844795	1.00[ASN][1000 genomes]
rs35436573	1.00[ASN][1000 genomes]
rs703822	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs705707	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73340323	1.00[ASN][1000 genomes]
rs773121	1.00[ASN][1000 genomes]
rs773122	1.00[ASN][1000 genomes]
rs773123	1.00[ASN][1000 genomes]
rs773643	1.00[ASN][1000 genomes]
rs773645	1.00[ASN][1000 genomes]
rs773649	1.00[ASN][1000 genomes]
rs773662	1.00[ASN][1000 genomes]
rs7958618	1.00[ASN][1000 genomes]
rs7977273	1.00[ASN][1000 genomes]
rs812826	1.00[ASN][1000 genomes]
rs812842	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56390000-56391800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:56390000-56392000	Active TSS	Fetal Kidney	kidney
3	chr12:56390200-56391600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr12:56390200-56391600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:56390200-56391600	Active TSS	Aorta	Aorta
6	chr12:56390200-56391600	Flanking Active TSS	Fetal Brain Male	brain
7	chr12:56390200-56391600	Active TSS	Pancreas	Pancrea
8	chr12:56390200-56391800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr12:56390200-56391800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr12:56390200-56391800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:56390200-56391800	Active TSS	Ovary	ovary
12	chr12:56390200-56391800	Active TSS	NH-A	brain
13	chr12:56390200-56392000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr12:56390200-56392000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:56390200-56392000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:56390200-56392000	Active TSS	Rectal Smooth Muscle	rectum
17	chr12:56390200-56392200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:56390400-56391600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr12:56390400-56391600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:56390400-56391600	Active TSS	Fetal Heart	heart
21	chr12:56390400-56391600	Active TSS	Psoas Muscle	Psoas
22	chr12:56390400-56391600	Active TSS	Stomach Mucosa	stomach
23	chr12:56390400-56391600	Active TSS	A549	lung
24	chr12:56390400-56391800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:56390400-56391800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr12:56390400-56391800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:56390400-56391800	Active TSS	HSMMtube	muscle
28	chr12:56390400-56392000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:56390400-56392000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:56390400-56392000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:56390400-56392000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:56390600-56391600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr12:56390600-56391600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:56390600-56391600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:56390600-56391600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:56390600-56391600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
37	chr12:56390600-56391600	Active TSS	Gastric	stomach
38	chr12:56390600-56391800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:56390600-56391800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr12:56390600-56391800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:56390600-56391800	Active TSS	Esophagus	oesophagus
42	chr12:56390600-56391800	Active TSS	Fetal Intestine Large	intestine
43	chr12:56390600-56391800	Active TSS	Fetal Intestine Small	intestine
44	chr12:56390600-56391800	Active TSS	NHLF	lung
45	chr12:56390800-56391600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:56390800-56391800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr12:56390800-56392200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:56391000-56391600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:56391000-56391600	Flanking Active TSS	Placenta	Placenta
50	chr12:56391000-56391600	Transcr. at gene 5' and 3'	Right Atrium	heart

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