Variant report

Variant	rs73246126
Chromosome Location	chr12:8299012-8299013
allele	C/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	CTCF	chr12:8298960-8299110	AG10803	skin:	n/a	n/a
2	TEAD4	chr12:8298542-8299048	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:8298673-8299249	U87	brain:	n/a	n/a
4	POLR2A	chr12:8298241-8299017	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:8298980-8299130	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr12:8298940-8299090	AG10803	skin:	n/a	n/a
7	POLR2A	chr12:8298566-8299146	U87	brain:	n/a	n/a
8	YY1	chr12:8298282-8299153	NT2-D1	testis:	n/a	n/a
9	POLR2A	chr12:8298469-8299268	Gliobla	brain:	n/a	n/a
10	YY1	chr12:8298593-8299110	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF143	chr12:8298357-8299040	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:8298240-8299191	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:8298597-8299150	U87	brain:	n/a	n/a
14	CTCF	chr12:8299000-8299150	HBMEC	blood vessel:	n/a	n/a
15	E2F6	chr12:8298547-8299038	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:8298821-8299305	ProgFib	skin:	n/a	n/a
17	MAX	chr12:8298283-8299092	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GCSHP4	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11043787	1.00[EUR][1000 genomes]
rs12297901	1.00[EUR][1000 genomes]
rs12303420	1.00[AMR][1000 genomes]
rs12304428	1.00[EUR][1000 genomes]
rs57972054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60685879	1.00[EUR][1000 genomes]
rs60833337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73246124	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9669736	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
9	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv430460	chr12:8225225-8388656	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	esv1796538	chr12:8276546-8508693	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv427902	chr12:8276546-8623987	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	esv2757488	chr12:8280755-8580804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	esv1800691	chr12:8295128-8379865	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8295200-8306400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:8298000-8299400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:8298200-8299200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:8298200-8299200	Enhancers	Fetal Stomach	stomach
5	chr12:8298200-8299400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:8298200-8299400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:8298200-8299400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:8298200-8299400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:8298200-8299400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:8298200-8299400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:8298200-8299400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:8298200-8299400	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr12:8298200-8299400	Enhancers	Placenta	Placenta
14	chr12:8298200-8299400	Flanking Active TSS	HSMMtube	muscle
15	chr12:8298200-8299600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr12:8298400-8299200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:8298400-8299200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:8298400-8299200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:8298400-8299200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:8298400-8299200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:8298400-8299200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr12:8298400-8299200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:8298400-8299200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr12:8298400-8299200	Enhancers	Colon Smooth Muscle	Colon
25	chr12:8298400-8299400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:8298400-8299400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:8298400-8299400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:8298400-8299400	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr12:8298400-8299400	Bivalent Enhancer	Left Ventricle	heart
30	chr12:8298400-8299400	Flanking Active TSS	HSMM	muscle
31	chr12:8298400-8299400	Flanking Active TSS	NHDF-Ad	bronchial
32	chr12:8298400-8299400	Flanking Active TSS	Osteobl	bone
33	chr12:8298400-8299600	Enhancers	Fetal Muscle Leg	muscle
34	chr12:8298600-8299200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:8298600-8299200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:8298600-8299200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:8298600-8299200	Active TSS	Brain Angular Gyrus	brain
38	chr12:8298600-8299200	Bivalent/Poised TSS	HepG2	liver
39	chr12:8298600-8299400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:8298600-8299400	Active TSS	Stomach Smooth Muscle	stomach
41	chr12:8298800-8299200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr12:8298800-8299200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:8298800-8299200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:8298800-8299200	Active TSS	Brain Hippocampus Middle	brain
45	chr12:8298800-8299200	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr12:8298800-8299200	Active TSS	Fetal Kidney	kidney
47	chr12:8298800-8299200	Active TSS	Rectal Smooth Muscle	rectum
48	chr12:8298800-8299200	Flanking Active TSS	Right Atrium	heart
49	chr12:8298800-8299400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:8298800-8299400	Active TSS	Colonic Mucosa	Colon

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