Variant report

Variant	rs12831767
Chromosome Location	chr12:32552330-32552331
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	CTCF	chr12:32552236-32553011	HCT-116	colon:	n/a	chr12:32552403-32552411 chr12:32552660-32552673 chr12:32552660-32552669 chr12:32552964-32552972
2	ELF1	chr12:32552103-32553120	GM12878	blood:	n/a	chr12:32552142-32552154
3	ELF1	chr12:32552260-32552684	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:32552297-32552763	PANC-1	pancreas:	n/a	n/a
5	CTCF	chr12:32552282-32552955	MCF-7	breast:	n/a	chr12:32552403-32552411 chr12:32552660-32552673 chr12:32552660-32552669
6	REST	chr12:32552303-32553036	ECC-1	luminal epithelium:	n/a	chr12:32552796-32552809
7	TAF7	chr12:32552067-32553519	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:32552031-32553174	MCF-7	breast:	n/a	n/a
9	E2F6	chr12:32552052-32553121	A549	lung:	n/a	chr12:32552412-32552421 chr12:32552269-32552284 chr12:32552687-32552698 chr12:32552238-32552248 chr12:32552225-32552240
10	POLR2A	chr12:32552255-32553044	H1-neurons	neurons:	n/a	n/a
11	MAZ	chr12:32552070-32553389	Hela-S3	cervix:	n/a	chr12:32552147-32552157
12	POLR2A	chr12:32552033-32552924	A549	lung:	n/a	n/a
13	TEAD4	chr12:32551849-32553556	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr12:32551981-32553421	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr12:32551922-32553094	A549	lung:	n/a	chr12:32552147-32552157
16	TAF1	chr12:32552107-32553483	ECC-1	luminal epithelium:	n/a	n/a
17	ELF1	chr12:32552280-32553141	MCF-7	breast:	n/a	n/a
18	POLR2A	chr12:32551778-32553420	Hela-S3	cervix:	n/a	n/a
19	CREB1	chr12:32552177-32552959	K562	blood:	n/a	n/a
20	ZBTB7A	chr12:32551770-32553171	ECC-1	luminal epithelium:	n/a	n/a
21	NFIC	chr12:32551624-32553415	ECC-1	luminal epithelium:	n/a	n/a
22	REST	chr12:32552111-32553082	H1-neurons	neurons:	n/a	chr12:32552796-32552809
23	POLR2A	chr12:32552187-32552887	HUVEC	blood vessel:	n/a	n/a
24	GABPA	chr12:32552228-32553343	MCF-7	breast:	n/a	chr12:32552906-32552915
25	TAF7	chr12:32552026-32552896	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:32552119-32553026	ProgFib	skin:	n/a	n/a
27	CCNT2	chr12:32552175-32552976	K562	blood:	n/a	n/a
28	NR3C1	chr12:32552088-32552762	A549	lung:	n/a	chr12:32552116-32552129 chr12:32552297-32552313 chr12:32552298-32552312 chr12:32552298-32552313 chr12:32552298-32552312 chr12:32552297-32552313
29	RCOR1	chr12:32552109-32552803	K562	blood:	n/a	n/a
30	SIN3AK20	chr12:32552261-32553513	MCF-7	breast:	n/a	n/a
31	TCF12	chr12:32551771-32553090	A549	lung:	n/a	chr12:32552166-32552173 chr12:32552936-32552943 chr12:32552871-32552881
32	TAF1	chr12:32552018-32553517	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:32552020-32553335	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr12:32552064-32552837	Hela-S3	cervix:	n/a	n/a
35	YY1	chr12:32552229-32552842	K562	blood:	n/a	chr12:32552274-32552288 chr12:32552230-32552241
36	CTCF	chr12:32552167-32553319	A549	lung:	n/a	chr12:32552403-32552411 chr12:32552660-32552673 chr12:32552660-32552669 chr12:32552964-32552972
37	TCF12	chr12:32551550-32553633	ECC-1	luminal epithelium:	n/a	chr12:32552166-32552173 chr12:32552936-32552943 chr12:32552871-32552881
38	SRF	chr12:32552209-32553153	ECC-1	luminal epithelium:	n/a	chr12:32552238-32552248
39	EGR1	chr12:32551873-32553307	ECC-1	luminal epithelium:	n/a	chr12:32552188-32552197 chr12:32552233-32552243
40	POLR2A	chr12:32552188-32552839	SK-N-MC	brain:	n/a	n/a
41	ATF2	chr12:32552294-32553761	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF7L2	chr12:32551948-32553066	HCT-116	colon:	n/a	n/a
43	SPI1	chr12:32552209-32552642	HL-60	blood:	n/a	chr12:32552214-32552227 chr12:32552425-32552432
44	GTF2F1	chr12:32552221-32552717	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF143	chr12:32552040-32552832	H1-hESC	embryonic stem cell:	n/a	chr12:32552653-32552671 chr12:32552696-32552714
46	POLR2A	chr12:32552105-32553334	MCF-7	breast:	n/a	n/a
47	POLR2A	chr12:32552138-32552965	Hela-S3	cervix:	n/a	n/a
48	SIN3AK20	chr12:32552020-32553071	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr12:32551992-32553091	HCT-116	colon:	n/a	n/a
50	ESR1	chr12:32551883-32552401	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:32550852..32553049-chr12:32831118..32832629,2	MCF-7	breast:
2	chr12:32552199..32553014-chr7:48018664..48019299,2	HCT-116	colon:
3	chr12:32552095..32552992-chr19:18391097..18392504,4	Hela-S3	cervix:
4	chr12:32551025..32552744-chr12:32831132..32833604,2	K562	blood:
5	chr12:32547740..32549812-chr12:32551795..32554175,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207176	TF binding region
FGD4	TF binding region
ENSG00000130522	Chromatin interaction
ENSG00000136273	Chromatin interaction
ENSG00000087470	Chromatin interaction
ENSG00000207176	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3324783	chr12:32551310-32553858	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv3427823	chr12:32551585-32553583	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32551200-32554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:32551600-32552400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:32551600-32553000	Active TSS	Brain Angular Gyrus	brain
4	chr12:32551600-32553600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:32551600-32553800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr12:32551600-32553800	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:32551600-32554200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:32551800-32552400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr12:32551800-32552400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr12:32551800-32552400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:32551800-32552400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:32551800-32552400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:32551800-32552600	Active TSS	Fetal Brain Female	brain
14	chr12:32551800-32552800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:32551800-32552800	Active TSS	Brain Germinal Matrix	brain
16	chr12:32551800-32552800	Enhancers	Fetal Brain Male	brain
17	chr12:32551800-32552800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
18	chr12:32551800-32552800	Active TSS	NHLF	lung
19	chr12:32551800-32553000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
20	chr12:32551800-32553000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:32551800-32553000	Active TSS	Brain Cingulate Gyrus	brain
22	chr12:32551800-32553000	Active TSS	Brain Hippocampus Middle	brain
23	chr12:32551800-32553000	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr12:32551800-32553000	Active TSS	HSMMtube	muscle
25	chr12:32551800-32553200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:32551800-32553200	Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:32551800-32553400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:32551800-32553400	Active TSS	Aorta	Aorta
29	chr12:32551800-32553600	Active TSS	Brain Substantia Nigra	brain
30	chr12:32551800-32553600	Active TSS	HSMM	muscle
31	chr12:32551800-32553800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:32551800-32553800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:32551800-32553800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:32551800-32553800	Active TSS	Left Ventricle	heart
35	chr12:32551800-32554000	Active TSS	Right Ventricle	heart
36	chr12:32551800-32554200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr12:32551800-32554200	Active TSS	Ovary	ovary
38	chr12:32551800-32554400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr12:32551800-32554600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr12:32551800-32554800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr12:32551800-32555200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:32552000-32552400	Flanking Bivalent TSS/Enh	Thymus	Thymus
43	chr12:32552000-32552600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:32552000-32552600	Active TSS	Spleen	Spleen
45	chr12:32552000-32552600	Bivalent/Poised TSS	Osteobl	bone
46	chr12:32552000-32552800	Active TSS	Duodenum Mucosa	Duodenum
47	chr12:32552000-32552800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:32552000-32552800	Active TSS	Fetal Intestine Large	intestine
49	chr12:32552000-32552800	Active TSS	Psoas Muscle	Psoas
50	chr12:32552000-32552800	Active TSS	Stomach Smooth Muscle	stomach

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