Variant report

Variant	rs548167314
Chromosome Location	chr12:122234505-122234506
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	chr12:122231942-122234684	K562	blood:	n/a	n/a
2	POLR2A	chr12:122234149-122234656	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:122234169-122234646	A549	lung:	n/a	n/a
4	HEY1	chr12:122233913-122235684	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:122231256-122234731	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr12:122233854-122234665	K562	blood:	n/a	n/a
7	POLR2A	chr12:122231155-122237092	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:122233989-122234582	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr12:122234393-122234586	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:122229522-122241538	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:122234274-122234576	A549	lung:	n/a	n/a
12	POLR2A	chr12:122234162-122234653	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:122233964-122234649	GM12891	blood:	n/a	n/a
14	POLR2A	chr12:122234294-122234592	A549	lung:	n/a	n/a
15	POLR2A	chr12:122234105-122234688	GM12892	blood:	n/a	n/a
16	POLR2A	chr12:122234342-122234662	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr12:122231247-122234639	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:122234159-122234697	ProgFib	skin:	n/a	n/a
19	HNF4A	chr12:122234126-122234539	HepG2	liver:	n/a	chr12:122234352-122234367 chr12:122234353-122234365 chr12:122234352-122234367 chr12:122234359-122234367 chr12:122234352-122234367 chr12:122234353-122234365 chr12:122234352-122234366 chr12:122234352-122234367 chr12:122234358-122234366 chr12:122234351-122234366 chr12:122234352-122234367 chr12:122234353-122234366
20	POLR2A	chr12:122231231-122242190	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr12:122234228-122234526	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:122233924-122234694	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:122233878-122234686	GM12891	blood:	n/a	n/a
24	POLR2A	chr12:122231989-122234676	K562	blood:	n/a	n/a
25	POLR2A	chr12:122230384-122234714	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr12:122233875-122234728	H1-hESC	embryonic stem cell:	n/a	n/a
27	HNF4A	chr12:122234118-122234526	HepG2	liver:	n/a	chr12:122234352-122234367 chr12:122234353-122234365 chr12:122234352-122234367 chr12:122234359-122234367 chr12:122234352-122234367 chr12:122234353-122234365 chr12:122234352-122234366 chr12:122234352-122234367 chr12:122234358-122234366 chr12:122234351-122234366 chr12:122234352-122234367 chr12:122234353-122234366
28	POLR2A	chr12:122229221-122241674	GM12892	blood:	n/a	n/a
29	POLR2A	chr12:122233950-122234559	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:122230603-122234670	GM12892	blood:	n/a	n/a
31	POLR2A	chr12:122234219-122234521	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:122231188-122234637	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr12:122232010-122234571	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:122234294-122234592	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:122231207-122242268	MCF-7	breast:	n/a	n/a
36	POLR2A	chr12:122231668-122234717	K562	blood:	n/a	n/a
37	POLR2A	chr12:122233942-122234731	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:122229368-122234595	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:122234330-122235594	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:122231040-122242217	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:122233911-122234639	GM12891	blood:	n/a	n/a
42	POLR2A	chr12:122233920-122234652	HepG2	liver:	n/a	n/a
43	POLR2A	chr12:122231410-122236435	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:122231900-122238487	K562	blood:	n/a	n/a
45	POLR2A	chr12:122231709-122243601	K562	blood:	n/a	n/a
46	POLR2A	chr12:122234239-122234609	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:122233904-122234668	HL-60	blood:	n/a	n/a
48	MYBL2	chr12:122234013-122234600	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:122234179-122234707	A549	lung:	n/a	n/a
50	HEY1	chr12:122234245-122234608	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122233308..122235203-chr20:46415210..46416996,2	MCF-7	breast:
2	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
3	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
4	chr12:122234286..122236802-chr12:122459405..122461225,2	K562	blood:
5	chr12:122233178..122236048-chr16:88921009..88923883,2	MCF-7	breast:
6	chr12:121974972..121977558-chr12:122231894..122235040,4	MCF-7	breast:
7	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
8	chr12:122232180..122234901-chr12:122344222..122346588,2	K562	blood:
9	chr12:122233682..122234604-chr17:7387298..7388221,2	HCT-116	colon:
10	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
11	chr12:122233788..122236172-chr12:122398855..122400644,2	MCF-7	breast:
12	chr12:122017334..122020292-chr12:122231782..122234542,4	K562	blood:
13	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
14	chr12:122232866..122235205-chr12:122514967..122518209,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOF-1	chr12:122233183-122234785	ENSG00000212694.4
2	lnc-RHOF-1	chr12:122234097-122237538	NONHSAT031449
3	lnc-RHOF-1	chr12:122233182-122234928	NONHSAT031452
4	lnc-RHOF-1	chr12:122233178-122236657	NONHSAT031451

Variant related genes	Relation type
ENSG00000272849	TF binding region
RHOF	TF binding region
ENSG00000141012	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000167515	Chromatin interaction
ENSG00000256742	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000239082	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000181222	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	esv33181	chr12:122234153-122234621	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122229600-122235400	Enhancers	Fetal Heart	heart
2	chr12:122230800-122236400	Enhancers	Fetal Brain Male	brain
3	chr12:122231400-122235000	Flanking Active TSS	HepG2	liver
4	chr12:122232200-122235000	Enhancers	Left Ventricle	heart
5	chr12:122232200-122235400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:122232200-122236600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:122232400-122236600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:122232800-122234600	Genic enhancers	Brain Anterior Caudate	brain
9	chr12:122232800-122234600	Enhancers	Small Intestine	intestine
10	chr12:122232800-122234800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:122232800-122235400	Weak transcription	Aorta	Aorta
12	chr12:122232800-122238000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:122233000-122234600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:122233000-122234600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:122233000-122234600	Genic enhancers	Brain Substantia Nigra	brain
16	chr12:122233000-122234600	Genic enhancers	Gastric	stomach
17	chr12:122233000-122234600	Genic enhancers	Stomach Mucosa	stomach
18	chr12:122233000-122234800	Genic enhancers	Adipose Nuclei	Adipose
19	chr12:122233000-122234800	Genic enhancers	Brain Hippocampus Middle	brain
20	chr12:122233000-122234800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:122233000-122234800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:122233000-122234800	Genic enhancers	Fetal Muscle Leg	muscle
23	chr12:122233000-122234800	Genic enhancers	NHLF	lung
24	chr12:122233000-122235000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:122233000-122235000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:122233000-122235000	Genic enhancers	Fetal Intestine Large	intestine
27	chr12:122233000-122235000	Genic enhancers	Fetal Intestine Small	intestine
28	chr12:122233000-122235000	Enhancers	Pancreas	Pancrea
29	chr12:122233000-122235000	Enhancers	HMEC	breast
30	chr12:122233000-122235200	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr12:122233000-122235800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:122233000-122235800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
33	chr12:122233000-122236000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:122233000-122236000	Genic enhancers	Fetal Stomach	stomach
35	chr12:122233000-122236000	Genic enhancers	Fetal Thymus	thymus
36	chr12:122233000-122236800	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr12:122233000-122237000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:122233000-122237200	Genic enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:122233000-122237200	Genic enhancers	Fetal Lung	lung
40	chr12:122233200-122234800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:122233200-122234800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:122233200-122234800	Genic enhancers	Placenta	Placenta
43	chr12:122233200-122234800	Genic enhancers	Lung	lung
44	chr12:122233200-122235000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:122233200-122235000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:122233200-122235000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:122233200-122235200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:122233200-122235200	Enhancers	Right Atrium	heart
49	chr12:122233200-122235200	Genic enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:122233200-122235400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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