Variant report

Variant	rs527699317
Chromosome Location	chr12:120806391-120806392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr12:120805913-120806958	ECC-1	luminal epithelium:	n/a	chr12:120806250-120806261
2	POLR2A	chr12:120806287-120806728	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:120806211-120807378	H1-neurons	neurons:	n/a	n/a
4	REST	chr12:120806007-120807796	H1-neurons	neurons:	n/a	chr12:120806454-120806467 chr12:120807182-120807195 chr12:120806586-120806599 chr12:120806454-120806467
5	ZBTB7A	chr12:120805825-120806939	ECC-1	luminal epithelium:	n/a	chr12:120806250-120806261
6	TAF1	chr12:120806184-120806559	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:120806278-120807409	H1-neurons	neurons:	n/a	n/a
8	TBP	chr12:120806364-120806406	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120806383-120806433	GM12891	blood:	n/a
2	chr12:120806383-120806433	U87	brain:	n/a
3	chr12:120806383-120806433	HUVEC	blood vessel:	n/a
4	chr12:120806383-120806433	K562	blood:	n/a
5	chr12:120806383-120806433	MCF-7	breast:	n/a
6	chr12:120806383-120806433	BJ	skin:	n/a
7	chr12:120806383-120806433	NHBE	bronchial:	n/a
8	chr12:120806383-120806433	HCPEpiC	choroid plexus:	n/a
9	chr12:120806383-120806433	CMK	blood:	n/a
10	chr12:120806383-120806433	Hela-S3	cervix:	n/a
11	chr12:120806383-120806433	AG04449	skin:	fetal
12	chr12:120806383-120806433	PrEC	prostate:	n/a
13	chr12:120806383-120806433	Caco-2	colon:	n/a
14	chr12:120806383-120806433	AG10803	skin:	n/a
15	chr12:120806383-120806433	NB4	blood:	n/a
16	chr12:120806383-120806433	AoSMC	blood vessel:	n/a
17	chr12:120806383-120806433	HRE	kidney:	n/a
18	chr12:120806383-120806433	HepG2	liver:	n/a
19	chr12:120806383-120806433	HEEpiC	esophagus:	n/a
20	chr12:120806383-120806433	HCM	heart:	n/a
21	chr12:120806383-120806433	HCF	heart:	n/a
22	chr12:120806383-120806433	T-47D	breast:	n/a
23	chr12:120806383-120806433	IMR90	lung:	fetal
24	chr12:120806383-120806433	SAEC	small airway:	n/a
25	chr12:120806383-120806433	GM12878	blood:	n/a
26	chr12:120806383-120806433	HL-60	blood:	n/a
27	chr12:120806383-120806433	GM12892	blood:	n/a
28	chr12:120806383-120806433	HEK293	kidney:	embryo
29	chr12:120806383-120806433	ECC-1	luminal epithelium:	n/a
30	chr12:120806383-120806433	AG09319	gingival:	n/a
31	chr12:120806383-120806433	Jurkat	blood:	n/a
32	chr12:120806383-120806433	ovcar-3	ovarian:	n/a
33	chr12:120806383-120806433	ProgFib	skin:	n/a
34	chr12:120806383-120806433	PANC-1	pancreas:	n/a
35	chr12:120806383-120806433	NHDF-neo	bronchial:	n/a
36	chr12:120806383-120806433	NH-A	brain:	n/a
37	chr12:120806383-120806433	AG09309	skin:	n/a
38	chr12:120806383-120806433	BE2_C	brain:	n/a
39	chr12:120806383-120806433	HRPEpiC	eye:	n/a
40	chr12:120806383-120806433	HNPCEpiC	eye:	n/a
41	chr12:120806383-120806433	PFSK-1	brain:	n/a
42	chr12:120806383-120806433	AG04450	lung:	fetal
43	chr12:120806383-120806433	H1-hESC	embryonic stem cell:	embryo
44	chr12:120806383-120806433	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:120806383-120806433	RPTEC	kidney:	n/a
46	chr12:120806383-120806433	HMEC	breast:	n/a
47	chr12:120806383-120806433	SK-N-SH_RA	brain:	n/a
48	chr12:120806383-120806433	GM19239	blood:	n/a
49	chr12:120806383-120806433	SK-N-MC	brain:	n/a
50	chr12:120806383-120806433	HAEpiC	amniotic membrane:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120728393..120731711-chr12:120805239..120807118,3	MCF-7	breast:
2	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:
3	chr12:120803547..120806395-chr12:120907093..120909089,2	MCF-7	breast:

No data

Variant related genes	Relation type
MSI1	TF binding region
RPS27P25	TF binding region
RPS27P25	CpG island
MSI1	CpG island
ENSG00000111786	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	esv14211	chr12:120801254-120809932	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv560437	chr12:120803783-120809590	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3323244	chr12:120805194-120807742	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3393755	chr12:120805594-120808342	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3427204	chr12:120805794-120808192	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120804800-120807800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120804800-120807800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:120805000-120807800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:120805000-120808000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:120805200-120808000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:120805400-120806400	Bivalent/Poised TSS	Colonic Mucosa	Colon
7	chr12:120805400-120806600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr12:120805400-120806600	Bivalent Enhancer	Spleen	Spleen
9	chr12:120805400-120807400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:120805400-120807400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr12:120805400-120807600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:120805400-120807600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:120805600-120806400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:120805600-120806600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr12:120805600-120806600	Bivalent Enhancer	Placenta	Placenta
16	chr12:120805600-120806800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:120805600-120806800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:120805600-120806800	Bivalent/Poised TSS	Osteobl	bone
19	chr12:120805600-120807200	Active TSS	HSMM	muscle
20	chr12:120805600-120807400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:120805600-120807400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:120805600-120807400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr12:120805600-120807400	Active TSS	Brain Angular Gyrus	brain
24	chr12:120805600-120807400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:120805600-120807600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:120805600-120807800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr12:120805600-120807800	Active TSS	Right Atrium	heart
28	chr12:120805600-120808000	Active TSS	Left Ventricle	heart
29	chr12:120805800-120806400	Enhancers	Adipose Nuclei	Adipose
30	chr12:120805800-120806400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
31	chr12:120805800-120806400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
32	chr12:120805800-120806800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:120805800-120807200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:120805800-120807400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:120805800-120807400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:120805800-120807400	Active TSS	Brain Cingulate Gyrus	brain
37	chr12:120805800-120807400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
38	chr12:120805800-120807400	Bivalent/Poised TSS	Esophagus	oesophagus
39	chr12:120805800-120807400	Active TSS	Gastric	stomach
40	chr12:120805800-120807400	Active TSS	Pancreas	Pancrea
41	chr12:120805800-120807400	Active TSS	Psoas Muscle	Psoas
42	chr12:120805800-120807600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr12:120805800-120807600	Active TSS	Duodenum Mucosa	Duodenum
44	chr12:120805800-120807600	Active TSS	Fetal Brain Female	brain
45	chr12:120805800-120807600	Active TSS	Rectal Smooth Muscle	rectum
46	chr12:120805800-120808000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:120805800-120808200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr12:120806000-120806400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:120806000-120806400	Active TSS	Aorta	Aorta
50	chr12:120806000-120806400	Enhancers	Sigmoid Colon	Sigmoid Colon

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