Variant report

Variant	rs185396124
Chromosome Location	chr12:49453991-49453992
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	RUNX3	chr12:49453962-49455109	GM12878	blood:	n/a	n/a
2	MAX	chr12:49453904-49455216	HepG2	liver:	n/a	chr12:49454185-49454195 chr12:49454708-49454718 chr12:49454689-49454699 chr12:49454690-49454701
3	POLR2A	chr12:49453908-49454860	A549	lung:	n/a	n/a
4	POLR2A	chr12:49453789-49455394	K562	blood:	n/a	n/a
5	POLR2A	chr12:49453535-49455032	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr12:49451619-49455170	IMR90	lung:	n/a	chr12:49454043-49454053 chr12:49454374-49454384 chr12:49453842-49453852
7	POLR2A	chr12:49453593-49454906	GM10847	blood:	n/a	n/a
8	MAX	chr12:49453645-49455144	HepG2	liver:	n/a	chr12:49454185-49454195 chr12:49454708-49454718 chr12:49454689-49454699 chr12:49454690-49454701
9	POLR2A	chr12:49452782-49455199	HUVEC	blood vessel:	n/a	n/a
10	TCF12	chr12:49453918-49455260	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr12:49453533-49455168	HUVEC	blood vessel:	n/a	n/a
12	UBTF	chr12:49452969-49454790	K562	blood:	n/a	n/a
13	POLR2A	chr12:49453984-49455101	GM12878	blood:	n/a	n/a
14	MAX	chr12:49453436-49455228	ECC-1	luminal epithelium:	n/a	chr12:49454185-49454195 chr12:49454708-49454718 chr12:49454689-49454699 chr12:49453616-49453625 chr12:49454690-49454701
15	POLR2A	chr12:49453033-49455284	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:49453637-49455095	MCF-7	breast:	n/a	n/a
17	ZBTB7A	chr12:49453691-49455037	K562	blood:	n/a	chr12:49454089-49454096
18	MTA3	chr12:49452741-49455410	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:49453336-49455117	GM18951	blood:	n/a	n/a
20	MYC	chr12:49453954-49455492	K562	blood:	n/a	chr12:49454185-49454195 chr12:49454708-49454718 chr12:49454689-49454699 chr12:49454690-49454701
21	POLR2A	chr12:49453932-49455079	U87	brain:	n/a	n/a
22	TAF1	chr12:49453677-49454937	HepG2	liver:	n/a	n/a
23	CHD1	chr12:49453701-49454865	GM12878	blood:	n/a	chr12:49454043-49454053 chr12:49454374-49454384 chr12:49453842-49453852
24	TEAD4	chr12:49453602-49454888	ECC-1	luminal epithelium:	n/a	n/a
25	JUND	chr12:49453566-49455155	A549	lung:	n/a	chr12:49454115-49454124 chr12:49453840-49453849
26	ELF1	chr12:49453481-49455109	GM12878	blood:	n/a	chr12:49454278-49454290
27	POLR2A	chr12:49453927-49455028	PANC-1	pancreas:	n/a	n/a
28	YY1	chr12:49453953-49455039	HCT-116	colon:	n/a	chr12:49454382-49454391 chr12:49454180-49454189 chr12:49454721-49454730
29	POLR2A	chr12:49453586-49455210	GM12891	blood:	n/a	n/a
30	TCF12	chr12:49453092-49455328	ECC-1	luminal epithelium:	n/a	n/a
31	CREB1	chr12:49453843-49455189	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:49453738-49454931	HepG2	liver:	n/a	n/a
33	MAZ	chr12:49452677-49455391	IMR90	lung:	n/a	chr12:49454185-49454195 chr12:49454708-49454718 chr12:49453616-49453625 chr12:49454690-49454701
34	GABPA	chr12:49453868-49455113	SK-N-SH	brain:	n/a	chr12:49454180-49454189
35	BCLAF1	chr12:49453970-49455012	GM12878	blood:	n/a	chr12:49454720-49454729 chr12:49454357-49454370 chr12:49454043-49454056 chr12:49454950-49454963 chr12:49454180-49454193 chr12:49454892-49454905 chr12:49454573-49454582 chr12:49454363-49454376
36	POLR2A	chr12:49452959-49455403	K562	blood:	n/a	n/a
37	MAX	chr12:49453929-49455231	HCT-116	colon:	n/a	chr12:49454185-49454195 chr12:49454708-49454718 chr12:49454689-49454699 chr12:49454690-49454701
38	JUN	chr12:49453956-49455264	K562	blood:	n/a	chr12:49454115-49454124
39	POLR2A	chr12:49453592-49455093	A549	lung:	n/a	n/a
40	HEY1	chr12:49453907-49455204	K562	blood:	n/a	chr12:49454725-49454740 chr12:49454365-49454380 chr12:49454118-49454133
41	TAF1	chr12:49453319-49455161	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr12:49453127-49455315	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr12:49453945-49455170	MCF-7	breast:	n/a	chr12:49454180-49454189
44	CHD2	chr12:49453587-49455138	Hela-S3	cervix:	n/a	chr12:49454043-49454053 chr12:49454374-49454384 chr12:49453842-49453852
45	POLR2A	chr12:49453615-49455116	ECC-1	luminal epithelium:	n/a	n/a
46	GABPA	chr12:49453979-49454190	HepG2	liver:	n/a	chr12:49454180-49454189
47	SIN3A	chr12:49453141-49455163	H1-hESC	embryonic stem cell:	n/a	chr12:49454951-49454960 chr12:49453619-49453629 chr12:49453369-49453382 chr12:49453620-49453633
48	TCF7L2	chr12:49453000-49454932	Hela-S3	cervix:	n/a	chr12:49453675-49453685 chr12:49453671-49453687 chr12:49453672-49453686 chr12:49453671-49453687 chr12:49453672-49453686 chr12:49453675-49453684
49	REST	chr12:49453935-49455244	HL-60	blood:	n/a	chr12:49454132-49454145
50	YY1	chr12:49453979-49455107	SK-N-SH	brain:	n/a	chr12:49454382-49454391 chr12:49454180-49454189 chr12:49454721-49454730

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49453990-49454040	NT2-D1	testis:	n/a
2	chr12:49453990-49454040	Hela-S3	cervix:	n/a
3	chr12:49453990-49454040	AoSMC	blood vessel:	n/a
4	chr12:49453990-49454040	CMK	blood:	n/a
5	chr12:49453990-49454040	NB4	blood:	n/a
6	chr12:49453990-49454040	PANC-1	pancreas:	n/a
7	chr12:49453990-49454040	HRPEpiC	eye:	n/a
8	chr12:49453990-49454040	Caco-2	colon:	n/a
9	chr12:49453990-49454040	SKMC	muscle:	n/a
10	chr12:49453990-49454040	BE2_C	brain:	n/a
11	chr12:49453990-49454040	SAEC	small airway:	n/a
12	chr12:49453990-49454040	A549	lung:	n/a
13	chr12:49453990-49454040	NH-A	brain:	n/a
14	chr12:49453990-49454040	PFSK-1	brain:	n/a
15	chr12:49453990-49454040	SK-N-SH	brain:	n/a
16	chr12:49453990-49454040	NHDF-neo	bronchial:	n/a
17	chr12:49453990-49454040	HAEpiC	amniotic membrane:	n/a
18	chr12:49453990-49454040	K562	blood:	n/a
19	chr12:49453990-49454040	HRCEpiC	kidney:	n/a
20	chr12:49453990-49454040	GM12878	blood:	n/a
21	chr12:49453990-49454040	Hepatocyte	liver:	n/a
22	chr12:49453990-49454040	HIPEpiC	eye:	n/a
23	chr12:49453990-49454040	HCM	heart:	n/a
24	chr12:49453990-49454040	GM19239	blood:	n/a
25	chr12:49453990-49454040	HRE	kidney:	n/a
26	chr12:49453990-49454040	GM12891	blood:	n/a
27	chr12:49453990-49454040	AG04450	lung:	fetal
28	chr12:49453990-49454040	HCF	heart:	n/a
29	chr12:49453990-49454040	HCPEpiC	choroid plexus:	n/a
30	chr12:49453990-49454040	U87	brain:	n/a
31	chr12:49453990-49454040	HCT-116	colon:	n/a
32	chr12:49453990-49454040	HL-60	blood:	n/a
33	chr12:49453990-49454040	SK-N-MC	brain:	n/a
34	chr12:49453990-49454040	H1-hESC	embryonic stem cell:	embryo
35	chr12:49453990-49454040	LNCaP	prostate:	n/a
36	chr12:49453990-49454040	AG04449	skin:	fetal
37	chr12:49453990-49454040	HEK293	kidney:	embryo
38	chr12:49453990-49454040	Jurkat	blood:	n/a
39	chr12:49453990-49454040	MCF10A-Er-Src	breast:	n/a
40	chr12:49453990-49454040	ovcar-3	ovarian:	n/a
41	chr12:49453990-49454040	SK-N-SH_RA	brain:	n/a
42	chr12:49453990-49454040	HUVEC	blood vessel:	n/a
43	chr12:49453990-49454040	AG09319	gingival:	n/a
44	chr12:49453990-49454040	ProgFib	skin:	n/a
45	chr12:49453990-49454040	HNPCEpiC	eye:	n/a
46	chr12:49453990-49454040	GM12892	blood:	n/a
47	chr12:49453990-49454040	BJ	skin:	n/a
48	chr12:49453990-49454040	PrEC	prostate:	n/a
49	chr12:49453990-49454040	HEEpiC	esophagus:	n/a
50	chr12:49453990-49454040	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49447251..49459518-chr12:49480338..49487981,17	K562	blood:
2	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
3	chr12:49452282..49457106-chr12:49501761..49505806,6	K562	blood:
4	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
5	chr12:49453309..49455961-chr12:49948897..49951747,2	MCF-7	breast:
6	chr12:49210248..49212975-chr12:49452451..49454269,2	MCF-7	breast:
7	chr12:49453115..49455291-chr12:49657846..49660975,4	MCF-7	breast:
8	chr12:49245786..49247623-chr12:49451692..49454310,2	MCF-7	breast:
9	chr12:49452588..49458658-chr12:49486666..49491439,6	MCF-7	breast:
10	chr12:49448896..49462070-chr12:49656751..49663992,28	K562	blood:
11	chr12:49451508..49465481-chr12:49521303..49528986,40	MCF-7	breast:
12	chr12:49453107..49454677-chr12:49580973..49582766,2	K562	blood:
13	chr12:49453755..49454637-chr17:27620969..27621882,2	Hela-S3	cervix:
14	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
15	chr12:49450455..49459531-chr12:49522374..49527837,16	MCF-7	breast:
16	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
17	chr12:49449329..49454848-chr12:49480302..49484566,6	K562	blood:
18	chr12:49365267..49367565-chr12:49453514..49456197,2	K562	blood:
19	chr12:49453076..49457977-chr12:49485062..49491403,12	K562	blood:
20	chr12:46765603..46767339-chr12:49452531..49455344,2	K562	blood:
21	chr12:49206889..49209222-chr12:49451651..49454239,2	MCF-7	breast:
22	chr12:49453587..49454404-chr12:49522959..49523795,2	Hela-S3	cervix:
23	chr12:49450480..49457103-chr12:49487982..49492074,8	K562	blood:
24	chr12:49452655..49454232-chr8:145150875..145152586,2	MCF-7	breast:
25	chr12:49453688..49456279-chr12:49494326..49496673,3	K562	blood:
26	chr12:49453813..49454416-chr9:130565063..130566058,2	Hela-S3	cervix:
27	chr12:49453979..49454864-chr5:82372935..82373905,2	Hela-S3	cervix:
28	chr12:49452850..49457008-chr12:49658832..49661007,5	MCF-7	breast:
29	chr12:49452631..49454255-chr12:49495979..49497484,2	MCF-7	breast:
30	chr12:49424813..49427751-chr12:49451760..49454466,2	MCF-7	breast:
31	chr12:49432703..49444457-chr12:49447982..49454860,15	MCF-7	breast:
32	chr12:49407466..49416688-chr12:49451532..49456163,12	MCF-7	breast:
33	chr12:49449335..49458365-chr12:49656751..49666981,25	K562	blood:
34	chr12:49453099..49454977-chr16:2313964..2316664,2	MCF-7	breast:

Variant related genes	Relation type
KMT2D	TF binding region
KMT2D	CpG island
ENSG00000181929	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000169884	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000179091	Chromatin interaction
ENSG00000136877	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000174695	Chromatin interaction
ENSG00000152422	Chromatin interaction
ENSG00000108256	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000205937	Chromatin interaction
ENSG00000135519	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
6	esv3360842	chr12:49452910-49455458	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 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	chr12:49449200-49454200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:49450200-49455200	Active TSS	HSMMtube	muscle
3	chr12:49450800-49455400	Active TSS	Fetal Kidney	kidney
4	chr12:49451200-49454200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:49451200-49455200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:49451400-49455200	Active TSS	Lung	lung
7	chr12:49451800-49455000	Active TSS	Muscle Satellite Cultured Cells	--
8	chr12:49451800-49455000	Active TSS	GM12878-XiMat	blood
9	chr12:49451800-49455200	Active TSS	HSMM	muscle
10	chr12:49451800-49455600	Active TSS	NHDF-Ad	bronchial
11	chr12:49452000-49455000	Active TSS	Fetal Intestine Small	intestine
12	chr12:49452000-49455200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:49452000-49455200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:49452000-49455200	Active TSS	Psoas Muscle	Psoas
15	chr12:49452000-49455200	Bivalent/Poised TSS	HepG2	liver
16	chr12:49452000-49455400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:49452000-49455400	Active TSS	Esophagus	oesophagus
18	chr12:49452200-49455400	Active TSS	Aorta	Aorta
19	chr12:49452400-49455000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:49452400-49455200	Active TSS	Gastric	stomach
21	chr12:49452400-49455200	Active TSS	Small Intestine	intestine
22	chr12:49452400-49455200	Active TSS	A549	lung
23	chr12:49452400-49455400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:49452400-49455400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr12:49452400-49455400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:49452400-49455600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:49452600-49454200	Active TSS	Right Atrium	heart
28	chr12:49452600-49455000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:49452600-49455000	Active TSS	Fetal Heart	heart
30	chr12:49452600-49455000	Active TSS	Fetal Intestine Large	intestine
31	chr12:49452600-49455000	Active TSS	Pancreas	Pancrea
32	chr12:49452600-49455000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr12:49452600-49455200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:49452600-49455400	Active TSS	Rectal Smooth Muscle	rectum
35	chr12:49452600-49455400	Active TSS	HMEC	breast
36	chr12:49452800-49454800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr12:49452800-49454800	Active TSS	Thymus	Thymus
38	chr12:49452800-49455000	Active TSS	NHEK	skin
39	chr12:49452800-49455200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr12:49452800-49455200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:49452800-49455200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:49452800-49455200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:49452800-49455200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:49452800-49455200	Active TSS	Ovary	ovary
45	chr12:49452800-49455400	Active TSS	Colon Smooth Muscle	Colon
46	chr12:49452800-49455400	Active TSS	Left Ventricle	heart
47	chr12:49452800-49455400	Active TSS	Hela-S3	cervix
48	chr12:49452800-49455400	Active TSS	NHLF	lung
49	chr12:49452800-49455600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:49453000-49454800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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