Variant report

Variant	rs7298340
Chromosome Location	chr12:57610034-57610035
allele	A/C
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	ZEB1	chr12:57610022-57610531	GM12878	blood:	n/a	chr12:57610290-57610301
3	MAZ	chr12:57609891-57610562	HepG2	liver:	n/a	chr12:57610318-57610327
4	POLR2A	chr12:57609203-57610337	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr12:57606903-57610506	U87	brain:	n/a	n/a
6	RFX5	chr12:57609310-57610085	GM12878	blood:	n/a	chr12:57609655-57609664 chr12:57609652-57609667 chr12:57609653-57609667
7	POLR2A	chr12:57607153-57610401	U87	brain:	n/a	n/a
8	TCF12	chr12:57609765-57611352	ECC-1	luminal epithelium:	n/a	chr12:57610007-57610014
9	POLR2A	chr12:57609212-57610573	H1-neurons	neurons:	n/a	n/a
10	ZBTB7A	chr12:57609835-57610034	K562	blood:	n/a	n/a
11	HMGN3	chr12:57609914-57610514	K562	blood:	n/a	n/a
12	POLR2A	chr12:57606909-57610500	U87	brain:	n/a	n/a
13	RFX5	chr12:57607830-57610239	SK-N-SH	brain:	n/a	chr12:57609655-57609664 chr12:57609652-57609667 chr12:57609653-57609667
14	RFX5	chr12:57606888-57610516	IMR90	lung:	n/a	chr12:57609655-57609664 chr12:57609652-57609667 chr12:57609653-57609667
15	CTBP2	chr12:57609400-57610511	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB7A	chr12:57609722-57611566	ECC-1	luminal epithelium:	n/a	n/a
17	RFX5	chr12:57609194-57610153	HepG2	liver:	n/a	chr12:57609655-57609664 chr12:57609652-57609667 chr12:57609653-57609667
18	MAZ	chr12:57609541-57610046	GM12878	blood:	n/a	n/a
19	CHD2	chr12:57609875-57610044	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr12:57610018-57610611	A549	lung:	n/a	chr12:57610318-57610327
21	SIN3A	chr12:57610004-57610451	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZBTB7A	chr12:57609700-57611601	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr12:57607153-57610353	U87	brain:	n/a	n/a
24	CREB1	chr12:57609384-57610066	GM12878	blood:	n/a	n/a
25	NR2F2	chr12:57609991-57610576	MCF-7	breast:	n/a	n/a
26	MAX	chr12:57609714-57611883	A549	lung:	n/a	chr12:57610318-57610327

No.	Distal block	Cell Line	Cell type
1	chr12:57607877..57611743-chr12:57643490..57646687,3	K562	blood:
2	chr12:57608303..57611284-chr12:57611816..57613934,2	MCF-7	breast:
3	chr12:57606546..57610160-chr12:57612220..57614034,3	K562	blood:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs35146543	1.00[AMR][1000 genomes]
rs35381293	1.00[AMR][1000 genomes]
rs35425257	1.00[AMR][1000 genomes]
rs36049517	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36106329	1.00[AMR][1000 genomes]
rs6421185	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581130	1.00[MEX][hapmap]
rs7977876	1.00[MEX][hapmap];1.00[AMR][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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57603200-57610200	Weak transcription	Right Atrium	heart
2	chr12:57606400-57610200	Weak transcription	Aorta	Aorta
3	chr12:57606800-57610200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
4	chr12:57606800-57610200	Enhancers	Pancreas	Pancrea
5	chr12:57607200-57610800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr12:57607400-57610200	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr12:57607600-57610200	Weak transcription	Ovary	ovary
8	chr12:57607800-57610200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr12:57608000-57610200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:57608000-57610600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr12:57608400-57610200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:57608400-57610200	Bivalent Enhancer	Esophagus	oesophagus
13	chr12:57608400-57610200	Bivalent Enhancer	Placenta	Placenta
14	chr12:57608600-57610200	Bivalent Enhancer	Fetal Brain Male	brain
15	chr12:57608600-57610200	Enhancers	Spleen	Spleen
16	chr12:57608800-57610200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:57609000-57610200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:57609200-57610800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr12:57609200-57611200	Enhancers	Liver	Liver
20	chr12:57609400-57610200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:57609400-57610200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr12:57609400-57610200	Bivalent Enhancer	Brain Anterior Caudate	brain
23	chr12:57609400-57610200	Enhancers	Gastric	stomach
24	chr12:57609400-57610200	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr12:57609400-57610200	Bivalent Enhancer	NHDF-Ad	bronchial
26	chr12:57609400-57610400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr12:57609400-57610400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:57609400-57610400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:57609400-57610400	Flanking Active TSS	HSMM	muscle
30	chr12:57609400-57610600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:57609400-57610800	Bivalent Enhancer	Fetal Thymus	thymus
32	chr12:57609600-57610200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr12:57609600-57610200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:57609600-57610200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
35	chr12:57609600-57610200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:57609600-57610200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:57609600-57610200	Bivalent Enhancer	Fetal Stomach	stomach
38	chr12:57609600-57610200	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr12:57609600-57610200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr12:57609600-57610400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
41	chr12:57609600-57610400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr12:57609600-57610400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:57609600-57610600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr12:57609600-57611000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
45	chr12:57609600-57611200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
46	chr12:57609600-57611400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr12:57609600-57611800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr12:57609800-57610200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr12:57609800-57610200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
50	chr12:57609800-57610200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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