Variant report

Variant	rs7487148
Chromosome Location	chr12:57611437-57611438
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	MAZ	chr12:57609115-57611710	IMR90	lung:	n/a	chr12:57610318-57610327
2	POLR2A	chr12:57610610-57611459	H1-neurons	neurons:	n/a	n/a
3	ZBTB7A	chr12:57609722-57611566	ECC-1	luminal epithelium:	n/a	n/a
4	KAP1	chr12:57611091-57611677	HEK293	kidney:	n/a	n/a
5	MAX	chr12:57610061-57611527	ECC-1	luminal epithelium:	n/a	chr12:57610318-57610327
6	CTBP2	chr12:57610754-57611527	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF263	chr12:57610939-57611746	HEK293-T-REx	kidney:	n/a	chr12:57611545-57611554 chr12:57611446-57611467
8	MAX	chr12:57610036-57611885	ECC-1	luminal epithelium:	n/a	chr12:57610318-57610327
9	ZBTB7A	chr12:57609700-57611601	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr12:57610061-57611842	HCT-116	colon:	n/a	chr12:57610318-57610327
11	SUZ12	chr12:57610904-57612079	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr12:57609714-57611883	A549	lung:	n/a	chr12:57610318-57610327

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57609766..57611384-chr12:57611404..57613261,2	MCF-7	breast:
2	chr12:57607877..57611743-chr12:57643490..57646687,3	K562	blood:

Variant related genes	Relation type
NXPH4	TF binding region
ENSG00000182379	Chromatin interaction
ENSG00000185482	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34022740	0.81[AMR][1000 genomes]
rs61461775	0.81[AMR][1000 genomes]
rs7956397	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv869636	chr12:57590172-57613714	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv899116	chr12:57597169-57623363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57609600-57611800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
2	chr12:57609800-57611600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:57609800-57612000	Enhancers	Lung	lung
4	chr12:57609800-57614600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:57610000-57611600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:57610600-57611600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:57610600-57611600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
8	chr12:57610600-57611800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr12:57610800-57611600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:57610800-57611600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
11	chr12:57610800-57611600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:57610800-57611600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
13	chr12:57610800-57611600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
14	chr12:57610800-57611600	Flanking Active TSS	Pancreas	Pancrea
15	chr12:57610800-57611600	Flanking Active TSS	Right Ventricle	heart
16	chr12:57610800-57611600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
17	chr12:57610800-57611600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
18	chr12:57610800-57611600	Flanking Bivalent TSS/Enh	Osteobl	bone
19	chr12:57610800-57611800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:57610800-57611800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:57610800-57611800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:57610800-57611800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
23	chr12:57610800-57612000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:57610800-57612400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr12:57611000-57611600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:57611000-57611600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:57611000-57611600	Bivalent Enhancer	Fetal Thymus	thymus
28	chr12:57611000-57611600	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr12:57611000-57611600	Flanking Bivalent TSS/Enh	NHLF	lung
30	chr12:57611000-57611800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr12:57611000-57611800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:57611000-57611800	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr12:57611000-57611800	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr12:57611000-57611800	Flanking Bivalent TSS/Enh	NHEK	skin
35	chr12:57611000-57612200	Bivalent Enhancer	Spleen	Spleen
36	chr12:57611200-57611600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
37	chr12:57611200-57611600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
38	chr12:57611200-57611600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:57611200-57611600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:57611200-57611600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:57611200-57611600	Bivalent Enhancer	Liver	Liver
42	chr12:57611200-57611600	Bivalent Enhancer	Brain Anterior Caudate	brain
43	chr12:57611200-57611600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
44	chr12:57611200-57611600	Bivalent Enhancer	Colon Smooth Muscle	Colon
45	chr12:57611200-57611600	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr12:57611200-57611600	Flanking Bivalent TSS/Enh	Hela-S3	cervix
47	chr12:57611200-57611600	Bivalent Enhancer	NH-A	brain
48	chr12:57611200-57611800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:57611200-57611800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:57611200-57611800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

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