Variant report

Variant	rs563412223
Chromosome Location	chr12:48213415-48213416
allele	C/T
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	NR3C1	chr12:48212927-48214894	A549	lung:	n/a	chr12:48214341-48214348 chr12:48214168-48214181
2	POLR2A	chr12:48212541-48214340	GM12892	blood:	n/a	n/a
3	TAF1	chr12:48212590-48215151	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr12:48212665-48215399	Hela-S3	cervix:	n/a	n/a
5	TFAP2A	chr12:48212376-48215217	Hela-S3	cervix:	n/a	chr12:48213280-48213288 chr12:48212492-48212502 chr12:48215068-48215078 chr12:48212492-48212502 chr12:48213646-48213656 chr12:48212848-48212858 chr12:48213279-48213287 chr12:48212809-48212821 chr12:48213280-48213288 chr12:48215066-48215080 chr12:48213278-48213289 chr12:48213280-48213288 chr12:48212846-48212860 chr12:48213278-48213289 chr12:48212492-48212502 chr12:48215066-48215080 chr12:48212687-48212699 chr12:48213279-48213287 chr12:48213278-48213289 chr12:48212843-48212858 chr12:48212492-48212502 chr12:48213279-48213287 chr12:48212687-48212698 chr12:48212848-48212860 chr12:48213646-48213656 chr12:48213278-48213289
6	TCF12	chr12:48212677-48215465	ECC-1	luminal epithelium:	n/a	n/a
7	MAZ	chr12:48212023-48214870	K562	blood:	n/a	chr12:48213219-48213228 chr12:48213792-48213802
8	CREB1	chr12:48212967-48213467	A549	lung:	n/a	n/a
9	POLR2A	chr12:48212440-48214291	GM15510	blood:	n/a	n/a
10	POLR2A	chr12:48212964-48214913	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:48212622-48214297	K562	blood:	n/a	n/a
12	HA-E2F1	chr12:48213054-48214173	Hela-S3	cervix:	n/a	chr12:48213962-48213972
13	POLR2A	chr12:48210800-48213417	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr12:48212148-48215367	H1-hESC	embryonic stem cell:	n/a	n/a
15	UBTF	chr12:48212776-48214222	K562	blood:	n/a	n/a
16	POLR2A	chr12:48212358-48214333	GM12878	blood:	n/a	n/a
17	NR2F2	chr12:48212788-48213497	MCF-7	breast:	n/a	n/a
18	POLR2A	chr12:48212564-48215383	Hela-S3	cervix:	n/a	n/a
19	SIN3A	chr12:48212432-48213443	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:48213014-48214126	GM18951	blood:	n/a	n/a
21	POLR2A	chr12:48212744-48214281	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr12:48212875-48214275	HepG2	liver:	n/a	n/a
23	HMGN3	chr12:48212446-48214138	K562	blood:	n/a	n/a
24	POLR2A	chr12:48213393-48214948	U87	brain:	n/a	n/a
25	POLR2A	chr12:48210923-48215326	Raji	blood:	n/a	n/a
26	ELF1	chr12:48212284-48214441	GM12878	blood:	n/a	chr12:48213236-48213248 chr12:48213569-48213581 chr12:48213941-48213953 chr12:48213324-48213336 chr12:48212874-48212883
27	POLR2A	chr12:48213009-48215084	ProgFib	skin:	n/a	n/a
28	POLR2A	chr12:48212486-48214708	NB4	blood:	n/a	n/a
29	STAT5A	chr12:48211912-48213428	GM12878	blood:	n/a	chr12:48212822-48212834
30	POLR2A	chr12:48213207-48214307	HEK293	kidney:	n/a	n/a
31	POLR2A	chr12:48212936-48214399	A549	lung:	n/a	n/a
32	EP300	chr12:48212762-48215286	ECC-1	luminal epithelium:	n/a	chr12:48213941-48213950 chr12:48212780-48212793 chr12:48213327-48213343 chr12:48213276-48213292 chr12:48213950-48213966 chr12:48213962-48213978
33	POLR2A	chr12:48212368-48215401	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:48213393-48215015	U87	brain:	n/a	n/a
35	E2F6	chr12:48213373-48213552	K562	blood:	n/a	n/a
36	POLR2A	chr12:48212406-48214288	GM12878	blood:	n/a	n/a
37	JUND	chr12:48212894-48214958	A549	lung:	n/a	n/a
38	POLR2A	chr12:48212372-48214326	GM18505	blood:	n/a	n/a
39	POLR2A	chr12:48212401-48214281	GM12878	blood:	n/a	n/a
40	TFAP2C	chr12:48212355-48215309	Hela-S3	cervix:	n/a	chr12:48214259-48214274
41	POLR2A	chr12:48212919-48213416	PFSK-1	brain:	n/a	n/a
42	CHD2	chr12:48212424-48215089	Hela-S3	cervix:	n/a	n/a
43	ZBTB7A	chr12:48212450-48214022	K562	blood:	n/a	chr12:48213045-48213054
44	TCF12	chr12:48212803-48215450	ECC-1	luminal epithelium:	n/a	n/a
45	HCFC1	chr12:48212231-48215549	Hela-S3	cervix:	n/a	n/a
46	REST	chr12:48212719-48214965	H1-neurons	neurons:	n/a	chr12:48214741-48214761 chr12:48213826-48213836
47	UBTF	chr12:48212424-48214767	K562	blood:	n/a	n/a
48	ETS1	chr12:48212993-48213435	GM12878	blood:	n/a	chr12:48213137-48213148 chr12:48213217-48213230 chr12:48213247-48213260
49	SIN3AK20	chr12:48212863-48213474	PANC-1	pancreas:	n/a	n/a
50	E2F6	chr12:48212935-48214245	K562	blood:	n/a	chr12:48213962-48213972

No.	Distal block	Cell Line	Cell type
1	chr12:48184371..48186432-chr12:48213381..48215555,2	MCF-7	breast:
2	chr12:48165387..48167380-chr12:48211794..48213722,3	MCF-7	breast:
3	chr12:48211668..48213938-chr12:48298192..48300037,2	MCF-7	breast:
4	chr12:48180097..48182896-chr12:48212671..48214919,5	MCF-7	breast:
5	chr12:48118580..48122371-chr12:48212442..48215354,3	MCF-7	breast:
6	chr12:48212890..48213816-chr17:5094659..5095485,2	Hela-S3	cervix:
7	chr12:48185713..48187235-chr12:48211636..48214598,2	K562	blood:
8	chr12:48166096..48168794-chr12:48212793..48215345,3	K562	blood:
9	chr12:48144391..48147829-chr12:48212557..48216683,4	MCF-7	breast:
10	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
11	chr12:48165941..48169073-chr12:48212869..48214658,5	MCF-7	breast:
12	chr12:48213261..48213880-chr6:33256853..33257420,2	Hela-S3	cervix:
13	chr12:48213161..48214075-chr19:17516053..17516566,2	Hela-S3	cervix:
14	chr12:48098678..48101690-chr12:48212441..48216325,5	MCF-7	breast:
15	chr12:48170860..48172762-chr12:48213398..48215365,3	MCF-7	breast:
16	chr1:53662219..53662719-chr12:48213339..48213840,2	NB4	blood:
17	chr12:48166096..48168794-chr12:48212793..48215345,4	K562	blood:
18	chr12:48213022..48213958-chr5:34007842..34008625,2	Hela-S3	cervix:
19	chr11:61582882..61583588-chr12:48213238..48213807,2	Hela-S3	cervix:
20	chr12:48212981..48215317-chr3:161089373..161090906,2	MCF-7	breast:
21	chr12:48135112..48136657-chr12:48212167..48214385,2	K562	blood:
22	chr12:46662257..46664463-chr12:48212247..48214266,2	MCF-7	breast:
23	chr12:48212892..48213761-chr5:148205735..148206239,2	NB4	blood:
24	chr12:48213150..48213906-chr3:150125788..150126772,2	Hela-S3	cervix:
25	chr12:48181077..48183243-chr12:48212679..48214821,2	K562	blood:
26	chr12:48171729..48173429-chr12:48213188..48215174,2	K562	blood:

Variant related genes	Relation type
HDAC7	TF binding region
ENSG00000180626	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000242110	Chromatin interaction
ENSG00000130303	Chromatin interaction
ENSG00000141971	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000157184	Chromatin interaction
ENSG00000140836	Chromatin interaction
ENSG00000169252	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000269640	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000149485	Chromatin interaction
ENSG00000261879	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000111424	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000211584	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	esv3404223	chr12:48212210-48215058	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	50 gene(s)	inside rSNPs	n/a
12	esv3357843	chr12:48212735-48214833	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	50 gene(s)	inside rSNPs	n/a
13	esv3355047	chr12:48213135-48214383	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	47 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48211600-48214400	Active TSS	Aorta	Aorta
2	chr12:48211600-48214600	Active TSS	Psoas Muscle	Psoas
3	chr12:48212000-48214800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:48212200-48214200	Active TSS	Fetal Kidney	kidney
5	chr12:48212200-48214200	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr12:48212200-48214400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:48212200-48214400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:48212200-48214400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:48212200-48214400	Active TSS	Small Intestine	intestine
10	chr12:48212200-48214600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:48212200-48214600	Active TSS	Esophagus	oesophagus
12	chr12:48212200-48214600	Active TSS	Right Atrium	heart
13	chr12:48212200-48214800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:48212400-48214000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:48212400-48214200	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:48212400-48214400	Active TSS	Gastric	stomach
17	chr12:48212400-48214600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:48212400-48214600	Active TSS	Colon Smooth Muscle	Colon
19	chr12:48212400-48214600	Active TSS	HSMM	muscle
20	chr12:48212400-48214600	Active TSS	HSMMtube	muscle
21	chr12:48212400-48214600	Active TSS	NHDF-Ad	bronchial
22	chr12:48212400-48214800	Active TSS	Ovary	ovary
23	chr12:48212600-48214000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:48212600-48214000	Active TSS	Primary T cells from cord blood	blood
25	chr12:48212600-48214000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr12:48212600-48214000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:48212600-48214000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:48212600-48214000	Active TSS	Fetal Thymus	thymus
29	chr12:48212600-48214000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr12:48212600-48214000	Active TSS	Spleen	Spleen
31	chr12:48212600-48214000	Active TSS	HUVEC	blood vessel
32	chr12:48212600-48214000	Active TSS	K562	blood
33	chr12:48212600-48214200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:48212600-48214200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:48212600-48214200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr12:48212600-48214200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr12:48212600-48214200	Active TSS	Fetal Intestine Large	intestine
38	chr12:48212600-48214200	Active TSS	Thymus	Thymus
39	chr12:48212600-48214400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:48212600-48214400	Active TSS	Lung	lung
41	chr12:48212600-48214400	Active TSS	NHEK	skin
42	chr12:48212600-48214600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:48212600-48214600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:48212600-48214600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:48212600-48214600	Active TSS	Left Ventricle	heart
46	chr12:48212600-48214800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr12:48212600-48214800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:48212800-48214000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr12:48212800-48214000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:48212800-48214000	Active TSS	HUES48 Cell Line	embryonic stem cell

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