Variant report

Variant	rs537692632
Chromosome Location	chr12:122234904-122234905
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	POLR2A	chr12:122234867-122235529	A549	lung:	n/a	n/a
2	TCF12	chr12:122234812-122235575	ECC-1	luminal epithelium:	n/a	chr12:122235313-122235323
3	BCL3	chr12:122234828-122236261	A549	lung:	n/a	n/a
4	PBX3	chr12:122234895-122235641	SK-N-SH	brain:	n/a	n/a
5	USF1	chr12:122234864-122235232	HepG2	liver:	n/a	chr12:122235004-122235015
6	MAX	chr12:122234814-122235637	HepG2	liver:	n/a	chr12:122235293-122235303
7	POLR2A	chr12:122234779-122241623	PANC-1	pancreas:	n/a	n/a
8	HEY1	chr12:122233913-122235684	HepG2	liver:	n/a	n/a
9	CTCF	chr12:122234900-122235050	HCM	heart:	n/a	chr12:122234969-122234982
10	MBD4	chr12:122234828-122235253	HepG2	liver:	n/a	n/a
11	YY1	chr12:122234848-122235396	ECC-1	luminal epithelium:	n/a	n/a
12	RAD21	chr12:122234873-122235421	ECC-1	luminal epithelium:	n/a	chr12:122235187-122235206 chr12:122235193-122235207 chr12:122235191-122235205 chr12:122235255-122235269
13	USF1	chr12:122234867-122235121	HepG2	liver:	n/a	chr12:122235004-122235015
14	POLR2A	chr12:122231155-122237092	GM12892	blood:	n/a	n/a
15	EP300	chr12:122234851-122235602	ECC-1	luminal epithelium:	n/a	chr12:122234977-122234993
16	POLR2A	chr12:122234803-122242201	K562	blood:	n/a	n/a
17	TBP	chr12:122234882-122235353	HepG2	liver:	n/a	n/a
18	ELF1	chr12:122234865-122235575	MCF-7	breast:	n/a	chr12:122235142-122235155
19	NR2F2	chr12:122234752-122236786	K562	blood:	n/a	chr12:122235105-122235120
20	MYBL2	chr12:122234735-122235495	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:122234768-122235599	PFSK-1	brain:	n/a	n/a
22	HEY1	chr12:122234874-122237595	K562	blood:	n/a	n/a
23	USF1	chr12:122234861-122235214	SK-N-SH_RA	brain:	n/a	chr12:122235004-122235015
24	EP300	chr12:122234903-122235372	HepG2	liver:	n/a	chr12:122234977-122234993
25	POLR2A	chr12:122229522-122241538	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:122234828-122236248	U87	brain:	n/a	n/a
27	SIN3AK20	chr12:122234864-122235552	A549	lung:	n/a	n/a
28	MXI1	chr12:122234637-122245085	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr12:122234858-122235396	HUVEC	blood vessel:	n/a	n/a
30	ESR1	chr12:122234901-122235195	ECC-1	luminal epithelium:	n/a	n/a
31	FOSL2	chr12:122234851-122235486	HepG2	liver:	n/a	chr12:122235267-122235276
32	NFIC	chr12:122234899-122235551	ECC-1	luminal epithelium:	n/a	n/a
33	NR2F2	chr12:122234804-122235604	MCF-7	breast:	n/a	chr12:122235105-122235120
34	POLR2A	chr12:122234794-122240414	K562	blood:	n/a	n/a
35	ELF1	chr12:122234863-122235459	HepG2	liver:	n/a	chr12:122235142-122235155
36	SP4	chr12:122234855-122235183	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:122234891-122235550	PFSK-1	brain:	n/a	n/a
38	HNF4A	chr12:122234896-122235416	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:122234890-122235549	K562	blood:	n/a	n/a
40	GABPA	chr12:122234862-122235587	SK-N-SH	brain:	n/a	chr12:122235293-122235302
41	YY1	chr12:122234784-122235431	HepG2	liver:	n/a	n/a
42	MAX	chr12:122234897-122235437	K562	blood:	n/a	chr12:122235293-122235303
43	USF1	chr12:122234843-122235382	A549	lung:	n/a	chr12:122235257-122235273 chr12:122235004-122235015 chr12:122235249-122235265
44	POLR2A	chr12:122234749-122235708	U87	brain:	n/a	n/a
45	TCF7L2	chr12:122234891-122235412	MCF-7	breast:	n/a	n/a
46	STAT3	chr12:122234859-122235135	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr12:122234814-122235553	ECC-1	luminal epithelium:	n/a	chr12:122235293-122235303
48	ESR1	chr12:122234877-122235287	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr12:122231231-122242190	PANC-1	pancreas:	n/a	n/a
50	TEAD4	chr12:122234812-122235460	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	chr12:122214221..122214729-chr12:122234661..122235608,2	K562	blood:
7	chr12:121974972..121977558-chr12:122231894..122235040,4	MCF-7	breast:
8	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
9	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
10	chr12:122233788..122236172-chr12:122398855..122400644,2	MCF-7	breast:
11	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
12	chr12:122232866..122235205-chr12:122514967..122518209,3	K562	blood:
13	chr12:122234532..122235183-chr22:19419403..19420105,2	Hela-S3	cervix:

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

Variant related genes	Relation type
RHOF	TF binding region
ENSG00000212694	TF binding region
ENSG00000272849	TF binding region
ENSG00000110801	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000185608	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000141012	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000167515	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000196562	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	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 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	chr12:122232800-122235400	Weak transcription	Aorta	Aorta
9	chr12:122232800-122238000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:122233000-122235000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:122233000-122235000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:122233000-122235000	Genic enhancers	Fetal Intestine Large	intestine
13	chr12:122233000-122235000	Genic enhancers	Fetal Intestine Small	intestine
14	chr12:122233000-122235000	Enhancers	Pancreas	Pancrea
15	chr12:122233000-122235000	Enhancers	HMEC	breast
16	chr12:122233000-122235200	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr12:122233000-122235800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:122233000-122235800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
19	chr12:122233000-122236000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:122233000-122236000	Genic enhancers	Fetal Stomach	stomach
21	chr12:122233000-122236000	Genic enhancers	Fetal Thymus	thymus
22	chr12:122233000-122236800	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr12:122233000-122237000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:122233000-122237200	Genic enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:122233000-122237200	Genic enhancers	Fetal Lung	lung
26	chr12:122233200-122235000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:122233200-122235000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:122233200-122235000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:122233200-122235200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:122233200-122235200	Enhancers	Right Atrium	heart
31	chr12:122233200-122235200	Genic enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:122233200-122235400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:122233200-122235800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:122233200-122236400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:122233200-122236800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
36	chr12:122233200-122236800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:122233200-122237000	Genic enhancers	Spleen	Spleen
38	chr12:122233200-122237200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:122233400-122235000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:122233400-122235000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr12:122233400-122235400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:122233400-122235600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:122233400-122235800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:122233400-122235800	Weak transcription	GM12878-XiMat	blood
45	chr12:122233400-122236000	Genic enhancers	Dnd41	blood
46	chr12:122233400-122236800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:122233600-122235000	Genic enhancers	H1 Cell Line	embryonic stem cell
48	chr12:122233600-122235000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:122233600-122235400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:122233600-122235800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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