Variant report

Variant	rs76306214
Chromosome Location	chr12:26274410-26274411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr12:26274379-26274726	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr12:26274407-26274762	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr12:26274316-26278522	NT2-D1	testis:	n/a	n/a
4	E2F6	chr12:26274291-26274853	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr12:26274332-26274758	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:26274284-26275147	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr12:26274383-26274707	U87	brain:	n/a	n/a
8	POLR2A	chr12:26274154-26275369	PANC-1	pancreas:	n/a	n/a
9	SIN3A	chr12:26274362-26275012	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:26274089-26279927	PANC-1	pancreas:	n/a	n/a
11	CTCF	chr12:26274280-26274430	HRPEpiC	eye:	n/a	n/a
12	POLR2A	chr12:26274226-26275245	U87	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26274368-26274418	NHDF-neo	bronchial:	n/a
2	chr12:26274368-26274418	SKMC	muscle:	n/a
3	chr12:26274368-26274418	T-47D	breast:	n/a
4	chr12:26274368-26274418	GM06990	blood:	n/a
5	chr12:26274368-26274418	ovcar-3	ovarian:	n/a
6	chr12:26274368-26274418	LNCaP	prostate:	n/a
7	chr12:26274368-26274418	HRE	kidney:	n/a
8	chr12:26274368-26274418	SAEC	small airway:	n/a
9	chr12:26274368-26274418	HEK293	kidney:	embryo
10	chr12:26274368-26274418	HUVEC	blood vessel:	n/a
11	chr12:26274368-26274418	HNPCEpiC	eye:	n/a
12	chr12:26274368-26274418	HepG2	liver:	n/a
13	chr12:26274368-26274418	A549	lung:	n/a
14	chr12:26274368-26274418	IMR90	lung:	fetal
15	chr12:26274368-26274418	AG04449	skin:	fetal
16	chr12:26274368-26274418	HRPEpiC	eye:	n/a
17	chr12:26274368-26274418	K562	blood:	n/a
18	chr12:26274368-26274418	PrEC	prostate:	n/a
19	chr12:26274368-26274418	NB4	blood:	n/a
20	chr12:26274368-26274418	SK-N-SH_RA	brain:	n/a
21	chr12:26274368-26274418	HCF	heart:	n/a
22	chr12:26274368-26274418	Jurkat	blood:	n/a
23	chr12:26274368-26274418	GM12878	blood:	n/a
24	chr12:26274368-26274418	HMEC	breast:	n/a
25	chr12:26274368-26274418	MCF10A-Er-Src	breast:	n/a
26	chr12:26274368-26274418	SK-N-MC	brain:	n/a
27	chr12:26274368-26274418	HL-60	blood:	n/a
28	chr12:26274368-26274418	AG09309	skin:	n/a
29	chr12:26274368-26274418	U87	brain:	n/a
30	chr12:26274368-26274418	HEEpiC	esophagus:	n/a
31	chr12:26274368-26274418	HCT-116	colon:	n/a
32	chr12:26274368-26274418	HCM	heart:	n/a
33	chr12:26274368-26274418	AG10803	skin:	n/a
34	chr12:26274368-26274418	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:26274368-26274418	AoSMC	blood vessel:	n/a
36	chr12:26274368-26274418	AG09319	gingival:	n/a
37	chr12:26274368-26274418	BJ	skin:	n/a
38	chr12:26274368-26274418	AG04450	lung:	fetal
39	chr12:26274368-26274418	MCF-7	breast:	n/a
40	chr12:26274368-26274418	HIPEpiC	eye:	n/a
41	chr12:26274368-26274418	ProgFib	skin:	n/a
42	chr12:26274368-26274418	NHBE	bronchial:	n/a
43	chr12:26274368-26274418	NT2-D1	testis:	n/a
44	chr12:26274368-26274418	SK-N-SH	brain:	n/a
45	chr12:26274368-26274418	NH-A	brain:	n/a
46	chr12:26274368-26274418	HRCEpiC	kidney:	n/a
47	chr12:26274368-26274418	ECC-1	luminal epithelium:	n/a
48	chr12:26274368-26274418	GM19239	blood:	n/a
49	chr12:26274368-26274418	Hepatocyte	liver:	n/a
50	chr12:26274368-26274418	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26274388..26277209-chr12:26277264..26280315,5	K562	blood:

No data

Variant related genes	Relation type
SSPN	TF binding region
SSPN	CpG island
ENSG00000256894	Chromatin interaction
ENSG00000123095	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3407309	chr12:26274110-26277058	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26267400-26274800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:26267800-26275000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:26268000-26274600	Weak transcription	Right Ventricle	heart
4	chr12:26268000-26274800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26268000-26275000	Weak transcription	Hela-S3	cervix
6	chr12:26268200-26274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:26269600-26274800	Weak transcription	Left Ventricle	heart
8	chr12:26269800-26274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:26270400-26274600	Weak transcription	HSMMtube	muscle
10	chr12:26270600-26274600	Weak transcription	Fetal Heart	heart
11	chr12:26270600-26274600	Weak transcription	HSMM	muscle
12	chr12:26271400-26274600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:26272200-26274600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:26272200-26280000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:26272600-26274800	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:26272800-26274600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:26272800-26276800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:26273000-26280000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:26273400-26274600	Active TSS	Stomach Smooth Muscle	stomach
20	chr12:26273400-26275000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:26273400-26280000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:26273400-26280000	Active TSS	Right Atrium	heart
23	chr12:26273600-26274600	Active TSS	Brain Hippocampus Middle	brain
24	chr12:26273600-26275000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:26273600-26275000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr12:26273600-26276000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:26273600-26279800	Active TSS	Psoas Muscle	Psoas
28	chr12:26273600-26280000	Active TSS	Brain Substantia Nigra	brain
29	chr12:26273800-26275000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
30	chr12:26273800-26275000	Weak transcription	Esophagus	oesophagus
31	chr12:26273800-26275000	Flanking Active TSS	HMEC	breast
32	chr12:26273800-26275800	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr12:26274000-26274600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr12:26274000-26274600	Active TSS	Brain Cingulate Gyrus	brain
35	chr12:26274000-26280000	Active TSS	Brain Angular Gyrus	brain
36	chr12:26274200-26274600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr12:26274200-26274600	Active TSS	Adipose Nuclei	Adipose
38	chr12:26274200-26274800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:26274200-26275000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr12:26274200-26275000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:26274200-26275000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:26274200-26275200	Flanking Active TSS	NH-A	brain
43	chr12:26274200-26279600	Active TSS	Colon Smooth Muscle	Colon
44	chr12:26274400-26274600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
45	chr12:26274400-26274600	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr12:26274400-26274600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
47	chr12:26274400-26274600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:26274400-26274600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:26274400-26274600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:26274400-26274600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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