Variant report

Variant	rs143368900
Chromosome Location	chr12:31078979-31078980
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:0)
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	MXI1	chr12:31078809-31079564	H1-hESC	embryonic stem cell:	n/a	chr12:31079353-31079368
2	CTBP2	chr12:31078500-31079604	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr12:31078898-31079751	H1-hESC	embryonic stem cell:	n/a	chr12:31079579-31079592 chr12:31079650-31079661 chr12:31079280-31079291 chr12:31079518-31079529 chr12:31079368-31079379
4	ZNF263	chr12:31078575-31079189	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr12:31078945-31080180	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr12:31078930-31080600	H1-neurons	neurons:	n/a	chr12:31079230-31079243 chr12:31080511-31080524 chr12:31079478-31079496 chr12:31079273-31079283 chr12:31079636-31079649 chr12:31080050-31080063
7	TCF12	chr12:31078891-31079222	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:31078957-31079635	H1-neurons	neurons:	n/a	n/a
9	MXI1	chr12:31078649-31082379	SK-N-SH	brain:	n/a	chr12:31081271-31081286 chr12:31079353-31079368
10	MYC	chr12:31078979-31079572	H1-hESC	embryonic stem cell:	n/a	chr12:31079154-31079164
11	POLR2A	chr12:31078506-31080634	SK-N-MC	brain:	n/a	n/a
12	CHD2	chr12:31078905-31079452	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	chr12:31078979-31079029	HIPEpiC	eye:	n/a
2	chr12:31078979-31079029	HCPEpiC	choroid plexus:	n/a
3	chr12:31078979-31079029	HCM	heart:	n/a
4	chr12:31078979-31079029	SK-N-MC	brain:	n/a
5	chr12:31078979-31079029	K562	blood:	n/a
6	chr12:31078979-31079029	NH-A	brain:	n/a
7	chr12:31078979-31079029	Caco-2	colon:	n/a
8	chr12:31078979-31079029	Hela-S3	cervix:	n/a
9	chr12:31078979-31079029	HAEpiC	amniotic membrane:	n/a
10	chr12:31078979-31079029	CMK	blood:	n/a
11	chr12:31078979-31079029	HRCEpiC	kidney:	n/a
12	chr12:31078979-31079029	HL-60	blood:	n/a
13	chr12:31078979-31079029	HEK293	kidney:	embryo
14	chr12:31078979-31079029	PrEC	prostate:	n/a
15	chr12:31078979-31079029	A549	lung:	n/a
16	chr12:31078979-31079029	NT2-D1	testis:	n/a
17	chr12:31078979-31079029	ovcar-3	ovarian:	n/a
18	chr12:31078979-31079029	HEEpiC	esophagus:	n/a
19	chr12:31078979-31079029	MCF-7	breast:	n/a
20	chr12:31078979-31079029	HepG2	liver:	n/a
21	chr12:31078979-31079029	NHBE	bronchial:	n/a
22	chr12:31078979-31079029	AG04450	lung:	fetal
23	chr12:31078979-31079029	HCT-116	colon:	n/a
24	chr12:31078979-31079029	GM12878	blood:	n/a
25	chr12:31078979-31079029	HRPEpiC	eye:	n/a
26	chr12:31078979-31079029	NHDF-neo	bronchial:	n/a
27	chr12:31078979-31079029	HCF	heart:	n/a
28	chr12:31078979-31079029	HMEC	breast:	n/a
29	chr12:31078979-31079029	T-47D	breast:	n/a
30	chr12:31078979-31079029	PANC-1	pancreas:	n/a
31	chr12:31078979-31079029	RPTEC	kidney:	n/a
32	chr12:31078979-31079029	ECC-1	luminal epithelium:	n/a
33	chr12:31078979-31079029	NB4	blood:	n/a
34	chr12:31078979-31079029	H1-hESC	embryonic stem cell:	embryo
35	chr12:31078979-31079029	GM12891	blood:	n/a
36	chr12:31078979-31079029	Jurkat	blood:	n/a
37	chr12:31078979-31079029	LNCaP	prostate:	n/a
38	chr12:31078979-31079029	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:31078979-31079029	MCF10A-Er-Src	breast:	n/a
40	chr12:31078979-31079029	AG10803	skin:	n/a
41	chr12:31078979-31079029	BE2_C	brain:	n/a
42	chr12:31078979-31079029	GM12892	blood:	n/a
43	chr12:31078979-31079029	SKMC	muscle:	n/a
44	chr12:31078979-31079029	AG09319	gingival:	n/a
45	chr12:31078979-31079029	AG04449	skin:	fetal
46	chr12:31078979-31079029	BJ	skin:	n/a
47	chr12:31078979-31079029	AoSMC	blood vessel:	n/a
48	chr12:31078979-31079029	PFSK-1	brain:	n/a
49	chr12:31078979-31079029	HUVEC	blood vessel:	n/a
50	chr12:31078979-31079029	ProgFib	skin:	n/a

No data

Variant related genes	Relation type
TSPAN11	TF binding region
TSPAN11	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv1051648	chr12:31069125-31103671	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2422366	chr12:31071959-31276836	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv658	chr12:31072400-31108649	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3431172	chr12:31078685-31080783	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31076400-31079000	Weak transcription	Right Atrium	heart
2	chr12:31077800-31079000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:31077800-31079000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31078000-31079000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:31078200-31079000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr12:31078400-31079000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:31078400-31079000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr12:31078400-31079200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr12:31078400-31080000	Enhancers	Fetal Heart	heart
10	chr12:31078600-31079000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:31078600-31079000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:31078600-31079000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:31078600-31079000	Bivalent Enhancer	Brain Anterior Caudate	brain
14	chr12:31078600-31079000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr12:31078600-31079000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr12:31078600-31079200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:31078600-31079200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr12:31078600-31079200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr12:31078600-31079200	Enhancers	Left Ventricle	heart
20	chr12:31078600-31079200	Enhancers	Lung	lung
21	chr12:31078800-31079000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr12:31078800-31079000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr12:31078800-31079000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr12:31078800-31079000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:31078800-31079000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:31078800-31079000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:31078800-31079000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:31078800-31079000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:31078800-31079000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:31078800-31079000	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr12:31078800-31079000	Enhancers	Brain Angular Gyrus	brain
32	chr12:31078800-31079000	Enhancers	Brain Hippocampus Middle	brain
33	chr12:31078800-31079000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:31078800-31079000	Enhancers	Brain Substantia Nigra	brain
35	chr12:31078800-31079000	Bivalent Enhancer	Colonic Mucosa	Colon
36	chr12:31078800-31079000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
37	chr12:31078800-31079000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr12:31078800-31079000	Enhancers	HUVEC	blood vessel
39	chr12:31078800-31079000	Bivalent/Poised TSS	Osteobl	bone
40	chr12:31078800-31079200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
41	chr12:31078800-31079200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:31078800-31079200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:31078800-31079200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:31078800-31079200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:31078800-31079200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr12:31078800-31079200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr12:31078800-31079200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:31078800-31079200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr12:31078800-31079200	Flanking Active TSS	Fetal Brain Female	brain
50	chr12:31078800-31079200	Enhancers	Pancreas	Pancrea

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