Variant report

Variant	rs7305930
Chromosome Location	chr12:31079518-31079519
allele	A/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	POLR2A	chr12:31079288-31079684	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:31079400-31079550	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr12:31079204-31079653	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr12:31079074-31080355	H1-hESC	embryonic stem cell:	n/a	chr12:31079154-31079164
5	CTCF	chr12:31079440-31079590	AG04449	skin:	n/a	chr12:31079543-31079551
6	MXI1	chr12:31078809-31079564	H1-hESC	embryonic stem cell:	n/a	chr12:31079353-31079368
7	POLR2A	chr12:31079076-31079675	H1-neurons	neurons:	n/a	n/a
8	CTBP2	chr12:31078500-31079604	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:31079219-31079709	HepG2	liver:	n/a	n/a
10	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
11	MAX	chr12:31079099-31079576	SK-N-SH	brain:	n/a	chr12:31079154-31079164
12	MAX	chr12:31079101-31080426	H1-hESC	embryonic stem cell:	n/a	chr12:31079154-31079164
13	TBP	chr12:31079193-31079706	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:31078945-31080180	H1-hESC	embryonic stem cell:	n/a	n/a
15	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
16	CTCF	chr12:31079472-31079555	IMR90	lung:	n/a	chr12:31079543-31079551
17	TAF1	chr12:31079091-31079768	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:31079380-31079530	HAc	cerebellar:	n/a	n/a
19	MXI1	chr12:31079119-31079802	IMR90	lung:	n/a	chr12:31079353-31079368
20	CTCF	chr12:31079400-31079550	AG04450	lung:	n/a	n/a
21	POLR2A	chr12:31079198-31079556	SK-N-SH	brain:	n/a	n/a
22	CTCF	chr12:31079420-31079570	HCM	heart:	n/a	chr12:31079543-31079551
23	ZNF263	chr12:31079392-31080459	HEK293-T-REx	kidney:	n/a	chr12:31079622-31079631
24	POLR2A	chr12:31079097-31080311	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:31078957-31079635	H1-neurons	neurons:	n/a	n/a
26	E2F6	chr12:31079119-31079669	H1-hESC	embryonic stem cell:	n/a	chr12:31079338-31079347 chr12:31079502-31079512 chr12:31079501-31079511
27	MAX	chr12:31079118-31079641	SK-N-SH	brain:	n/a	chr12:31079154-31079164
28	GTF2F1	chr12:31079222-31079571	H1-hESC	embryonic stem cell:	n/a	n/a
29	TAF1	chr12:31079223-31079589	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr12:31079260-31079599	HepG2	liver:	n/a	n/a
31	E2F6	chr12:31079061-31080402	H1-hESC	embryonic stem cell:	n/a	chr12:31079817-31079826 chr12:31079338-31079347 chr12:31079502-31079512 chr12:31079501-31079511
32	POLR2A	chr12:31079233-31079674	HUVEC	blood vessel:	n/a	n/a
33	JUND	chr12:31079056-31079520	H1-hESC	embryonic stem cell:	n/a	chr12:31079339-31079348
34	MXI1	chr12:31078649-31082379	SK-N-SH	brain:	n/a	chr12:31081271-31081286 chr12:31079353-31079368
35	MYC	chr12:31078979-31079572	H1-hESC	embryonic stem cell:	n/a	chr12:31079154-31079164
36	POLR2A	chr12:31079051-31079533	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr12:31078506-31080634	SK-N-MC	brain:	n/a	n/a
38	MAX	chr12:31079172-31079572	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr12:31079380-31079530	AG09319	gingival:	n/a	n/a
40	POLR2A	chr12:31079388-31079757	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
TSPAN11	TF binding region

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:96 , 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	chr12:31079000-31079600	Active TSS	Gastric	stomach
5	chr12:31079000-31079800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:31079000-31079800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:31079000-31079800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:31079000-31079800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:31079000-31079800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
10	chr12:31079000-31079800	Enhancers	Fetal Brain Male	brain
11	chr12:31079000-31079800	Active TSS	Ovary	ovary
12	chr12:31079000-31079800	Active TSS	HSMMtube	muscle
13	chr12:31079000-31080000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr12:31079000-31080000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:31079000-31080000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr12:31079000-31080000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:31079000-31080000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:31079000-31080000	Bivalent Enhancer	Liver	Liver
19	chr12:31079000-31080000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr12:31079000-31080000	Bivalent Enhancer	Placenta	Placenta
21	chr12:31079000-31080000	Flanking Bivalent TSS/Enh	HMEC	breast
22	chr12:31079000-31080000	Active TSS	HSMM	muscle
23	chr12:31079000-31080200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr12:31079000-31080200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:31079000-31080200	Bivalent Enhancer	Fetal Thymus	thymus
26	chr12:31079000-31080400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr12:31079000-31080800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
28	chr12:31079200-31079600	Flanking Active TSS	Lung	lung
29	chr12:31079200-31079600	Flanking Active TSS	Pancreas	Pancrea
30	chr12:31079200-31079600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
31	chr12:31079200-31079600	Flanking Bivalent TSS/Enh	Thymus	Thymus
32	chr12:31079200-31079800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:31079200-31079800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:31079200-31079800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr12:31079200-31079800	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr12:31079200-31079800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:31079200-31079800	Active TSS	Brain Anterior Caudate	brain
38	chr12:31079200-31079800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:31079200-31079800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:31079200-31079800	Active TSS	Left Ventricle	heart
41	chr12:31079200-31079800	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
42	chr12:31079200-31079800	Active TSS	Right Atrium	heart
43	chr12:31079200-31079800	Active TSS	Right Ventricle	heart
44	chr12:31079200-31079800	Bivalent/Poised TSS	A549	lung
45	chr12:31079200-31080000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:31079200-31080000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:31079200-31080000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:31079200-31080000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:31079200-31080000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr12:31079200-31080000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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