Variant report

Variant	rs576420076
Chromosome Location	chr12:31079732-31079733
allele	G/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	MAX	chr12:31079074-31080355	H1-hESC	embryonic stem cell:	n/a	chr12:31079154-31079164
2	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
3	MAX	chr12:31079101-31080426	H1-hESC	embryonic stem cell:	n/a	chr12:31079154-31079164
4	POLR2A	chr12:31078945-31080180	H1-hESC	embryonic stem cell:	n/a	n/a
5	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
6	E2F6	chr12:31079705-31080226	H1-hESC	embryonic stem cell:	n/a	chr12:31079817-31079826
7	TAF1	chr12:31079091-31079768	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr12:31079119-31079802	IMR90	lung:	n/a	chr12:31079353-31079368
9	ZNF263	chr12:31079392-31080459	HEK293-T-REx	kidney:	n/a	chr12:31079622-31079631
10	POLR2A	chr12:31079097-31080311	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr12:31079061-31080402	H1-hESC	embryonic stem cell:	n/a	chr12:31079817-31079826 chr12:31079338-31079347 chr12:31079502-31079512 chr12:31079501-31079511
12	MXI1	chr12:31078649-31082379	SK-N-SH	brain:	n/a	chr12:31081271-31081286 chr12:31079353-31079368
13	POLR2A	chr12:31078506-31080634	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr12:31079388-31079757	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31079694-31079744	AG10803	skin:	n/a
2	chr12:31079694-31079744	CMK	blood:	n/a
3	chr12:31079694-31079744	T-47D	breast:	n/a
4	chr12:31079694-31079744	HRE	kidney:	n/a
5	chr12:31079694-31079744	ovcar-3	ovarian:	n/a
6	chr12:31079694-31079744	HepG2	liver:	n/a
7	chr12:31079694-31079744	GM12892	blood:	n/a
8	chr12:31079694-31079744	NH-A	brain:	n/a
9	chr12:31079694-31079744	HCPEpiC	choroid plexus:	n/a
10	chr12:31079694-31079744	NB4	blood:	n/a
11	chr12:31079694-31079744	GM06990	blood:	n/a
12	chr12:31079694-31079744	HRPEpiC	eye:	n/a
13	chr12:31079694-31079744	HPAEpiC	pulmonary alveolar:	n/a
14	chr12:31079694-31079744	Jurkat	blood:	n/a
15	chr12:31079694-31079744	SK-N-MC	brain:	n/a
16	chr12:31079694-31079744	K562	blood:	n/a
17	chr12:31079694-31079744	ECC-1	luminal epithelium:	n/a
18	chr12:31079694-31079744	AG09319	gingival:	n/a
19	chr12:31079694-31079744	IMR90	lung:	fetal
20	chr12:31079694-31079744	GM12878	blood:	n/a
21	chr12:31079694-31079744	PrEC	prostate:	n/a
22	chr12:31079694-31079744	NT2-D1	testis:	n/a
23	chr12:31079694-31079744	HMEC	breast:	n/a
24	chr12:31079694-31079744	A549	lung:	n/a
25	chr12:31079694-31079744	MCF-7	breast:	n/a
26	chr12:31079694-31079744	MCF10A-Er-Src	breast:	n/a
27	chr12:31079694-31079744	NHBE	bronchial:	n/a
28	chr12:31079694-31079744	HL-60	blood:	n/a
29	chr12:31079694-31079744	LNCaP	prostate:	n/a
30	chr12:31079694-31079744	AG09309	skin:	n/a
31	chr12:31079694-31079744	SAEC	small airway:	n/a
32	chr12:31079694-31079744	PANC-1	pancreas:	n/a
33	chr12:31079694-31079744	Caco-2	colon:	n/a
34	chr12:31079694-31079744	AoSMC	blood vessel:	n/a
35	chr12:31079694-31079744	BJ	skin:	n/a
36	chr12:31079694-31079744	H1-hESC	embryonic stem cell:	embryo
37	chr12:31079694-31079744	HRCEpiC	kidney:	n/a
38	chr12:31079694-31079744	U87	brain:	n/a
39	chr12:31079694-31079744	GM19239	blood:	n/a
40	chr12:31079694-31079744	AG04450	lung:	fetal
41	chr12:31079694-31079744	SK-N-SH_RA	brain:	n/a
42	chr12:31079694-31079744	BE2_C	brain:	n/a
43	chr12:31079694-31079744	HIPEpiC	eye:	n/a
44	chr12:31079694-31079744	HNPCEpiC	eye:	n/a
45	chr12:31079694-31079744	HAEpiC	amniotic membrane:	n/a
46	chr12:31079694-31079744	GM12891	blood:	n/a
47	chr12:31079694-31079744	PFSK-1	brain:	n/a
48	chr12:31079694-31079744	HCM	heart:	n/a
49	chr12:31079694-31079744	SK-N-SH	brain:	n/a
50	chr12:31079694-31079744	RPTEC	kidney:	n/a

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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31078400-31080000	Enhancers	Fetal Heart	heart
2	chr12:31078800-31080000	Active TSS	Fetal Kidney	kidney
3	chr12:31078800-31080600	Enhancers	Spleen	Spleen
4	chr12:31079000-31079800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:31079000-31079800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:31079000-31079800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:31079000-31079800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:31079000-31079800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
9	chr12:31079000-31079800	Enhancers	Fetal Brain Male	brain
10	chr12:31079000-31079800	Active TSS	Ovary	ovary
11	chr12:31079000-31079800	Active TSS	HSMMtube	muscle
12	chr12:31079000-31080000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr12:31079000-31080000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:31079000-31080000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:31079000-31080000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:31079000-31080000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:31079000-31080000	Bivalent Enhancer	Liver	Liver
18	chr12:31079000-31080000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr12:31079000-31080000	Bivalent Enhancer	Placenta	Placenta
20	chr12:31079000-31080000	Flanking Bivalent TSS/Enh	HMEC	breast
21	chr12:31079000-31080000	Active TSS	HSMM	muscle
22	chr12:31079000-31080200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr12:31079000-31080200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:31079000-31080200	Bivalent Enhancer	Fetal Thymus	thymus
25	chr12:31079000-31080400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr12:31079000-31080800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr12:31079200-31079800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:31079200-31079800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:31079200-31079800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr12:31079200-31079800	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr12:31079200-31079800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:31079200-31079800	Active TSS	Brain Anterior Caudate	brain
33	chr12:31079200-31079800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr12:31079200-31079800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:31079200-31079800	Active TSS	Left Ventricle	heart
36	chr12:31079200-31079800	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
37	chr12:31079200-31079800	Active TSS	Right Atrium	heart
38	chr12:31079200-31079800	Active TSS	Right Ventricle	heart
39	chr12:31079200-31079800	Bivalent/Poised TSS	A549	lung
40	chr12:31079200-31080000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr12:31079200-31080000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:31079200-31080000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:31079200-31080000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:31079200-31080000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:31079200-31080000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:31079200-31080000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr12:31079200-31080000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:31079200-31080000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:31079200-31080000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:31079200-31080000	Active TSS	Fetal Brain Female	brain

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