Variant report

Variant	rs531314056
Chromosome Location	chr12:122235198-122235199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:443)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	ARID3A	chr12:122234938-122235370	HepG2	liver:	n/a	n/a
3	TCF12	chr12:122234812-122235575	ECC-1	luminal epithelium:	n/a	chr12:122235313-122235323
4	CTCF	chr12:122235120-122235270	AG10803	skin:	n/a	chr12:122235191-122235204 chr12:122235256-122235269 chr12:122235189-122235207 chr12:122235184-122235205
5	EP300	chr12:122235003-122235378	K562	blood:	n/a	n/a
6	TAF1	chr12:122234928-122235470	K562	blood:	n/a	n/a
7	BCL3	chr12:122234828-122236261	A549	lung:	n/a	n/a
8	PBX3	chr12:122234895-122235641	SK-N-SH	brain:	n/a	n/a
9	USF1	chr12:122234864-122235232	HepG2	liver:	n/a	chr12:122235004-122235015
10	USF2	chr12:122234949-122235251	Hela-S3	cervix:	n/a	n/a
11	MYC	chr12:122234980-122235214	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:122235100-122235250	AG04450	lung:	n/a	chr12:122235191-122235204 chr12:122235189-122235207 chr12:122235184-122235205
13	MAX	chr12:122234814-122235637	HepG2	liver:	n/a	chr12:122235293-122235303
14	HDAC2	chr12:122234988-122235328	K562	blood:	n/a	n/a
15	POLR2A	chr12:122234779-122241623	PANC-1	pancreas:	n/a	n/a
16	IRF1	chr12:122234956-122235542	K562	blood:	n/a	chr12:122235262-122235276 chr12:122235292-122235306 chr12:122235151-122235165
17	UBTF	chr12:122235012-122235354	K562	blood:	n/a	n/a
18	HEY1	chr12:122233913-122235684	HepG2	liver:	n/a	n/a
19	MBD4	chr12:122234828-122235253	HepG2	liver:	n/a	n/a
20	YY1	chr12:122234848-122235396	ECC-1	luminal epithelium:	n/a	n/a
21	RAD21	chr12:122234873-122235421	ECC-1	luminal epithelium:	n/a	chr12:122235187-122235206 chr12:122235193-122235207 chr12:122235191-122235205 chr12:122235255-122235269
22	TEAD4	chr12:122234909-122235423	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr12:122235157-122235336	K562	blood:	n/a	n/a
24	YY1	chr12:122234981-122235431	SK-N-SH_RA	brain:	n/a	n/a
25	POLR2A	chr12:122231155-122237092	GM12892	blood:	n/a	n/a
26	POLR2A	chr12:122234914-122237514	HepG2	liver:	n/a	n/a
27	JUND	chr12:122235121-122235367	H1-hESC	embryonic stem cell:	n/a	chr12:122235267-122235276
28	RAD21	chr12:122234931-122235384	SK-N-SH_RA	brain:	n/a	chr12:122235187-122235206 chr12:122235193-122235207 chr12:122235191-122235205 chr12:122235255-122235269
29	EP300	chr12:122234851-122235602	ECC-1	luminal epithelium:	n/a	chr12:122234977-122234993
30	EP300	chr12:122234940-122235452	T-47D	breast:	n/a	chr12:122234977-122234993
31	MAX	chr12:122234960-122235427	K562	blood:	n/a	chr12:122235293-122235303
32	CTCF	chr12:122235120-122235270	NHDF-neo	bronchial:	n/a	chr12:122235191-122235204 chr12:122235256-122235269 chr12:122235189-122235207 chr12:122235184-122235205
33	POLR2A	chr12:122234803-122242201	K562	blood:	n/a	n/a
34	JUND	chr12:122234950-122235246	HepG2	liver:	n/a	n/a
35	TBP	chr12:122234882-122235353	HepG2	liver:	n/a	n/a
36	MYC	chr12:122234983-122235353	HUVEC	blood vessel:	n/a	chr12:122235293-122235303
37	CTCF	chr12:122235100-122235250	Caco-2	colon:	n/a	chr12:122235191-122235204 chr12:122235189-122235207 chr12:122235184-122235205
38	ELF1	chr12:122234865-122235575	MCF-7	breast:	n/a	chr12:122235142-122235155
39	NR2F2	chr12:122234752-122236786	K562	blood:	n/a	chr12:122235105-122235120
40	EP300	chr12:122235064-122235414	SK-N-SH_RA	brain:	n/a	n/a
41	MYBL2	chr12:122234735-122235495	HepG2	liver:	n/a	n/a
42	MXI1	chr12:122234934-122235629	Hela-S3	cervix:	n/a	n/a
43	JUND	chr12:122234959-122235552	K562	blood:	n/a	chr12:122235267-122235276
44	POLR2A	chr12:122234768-122235599	PFSK-1	brain:	n/a	n/a
45	HEY1	chr12:122234874-122237595	K562	blood:	n/a	n/a
46	USF1	chr12:122234861-122235214	SK-N-SH_RA	brain:	n/a	chr12:122235004-122235015
47	EP300	chr12:122234903-122235372	HepG2	liver:	n/a	chr12:122234977-122234993
48	POLR2A	chr12:122229522-122241538	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:122234828-122236248	U87	brain:	n/a	n/a
50	MAX	chr12:122234960-122235384	A549	lung:	n/a	chr12:122235293-122235303

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122235169-122235219	SK-N-SH	brain:	n/a
2	chr12:122235169-122235219	HNPCEpiC	eye:	n/a
3	chr12:122235169-122235219	NHBE	bronchial:	n/a
4	chr12:122235169-122235219	Jurkat	blood:	n/a
5	chr12:122235169-122235219	ovcar-3	ovarian:	n/a
6	chr12:122235169-122235219	GM06990	blood:	n/a
7	chr12:122235169-122235219	HEEpiC	esophagus:	n/a
8	chr12:122235169-122235219	NHDF-neo	bronchial:	n/a
9	chr12:122235169-122235219	SK-N-SH_RA	brain:	n/a
10	chr12:122235169-122235219	U87	brain:	n/a
11	chr12:122235169-122235219	HCF	heart:	n/a
12	chr12:122235169-122235219	HMEC	breast:	n/a
13	chr12:122235169-122235219	H1-hESC	embryonic stem cell:	embryo
14	chr12:122235169-122235219	HPAEpiC	pulmonary alveolar:	n/a
15	chr12:122235169-122235219	MCF10A-Er-Src	breast:	n/a
16	chr12:122235169-122235219	AG04449	skin:	fetal
17	chr12:122235169-122235219	HL-60	blood:	n/a
18	chr12:122235169-122235219	HCM	heart:	n/a
19	chr12:122235169-122235219	HIPEpiC	eye:	n/a
20	chr12:122235169-122235219	HRPEpiC	eye:	n/a
21	chr12:122235169-122235219	GM12892	blood:	n/a
22	chr12:122235169-122235219	Caco-2	colon:	n/a
23	chr12:122235169-122235219	HEK293	kidney:	embryo
24	chr12:122235169-122235219	MCF-7	breast:	n/a
25	chr12:122235169-122235219	CMK	blood:	n/a
26	chr12:122235169-122235219	A549	lung:	n/a
27	chr12:122235169-122235219	GM12891	blood:	n/a
28	chr12:122235169-122235219	HRCEpiC	kidney:	n/a
29	chr12:122235169-122235219	NT2-D1	testis:	n/a
30	chr12:122235169-122235219	Hela-S3	cervix:	n/a
31	chr12:122235169-122235219	ProgFib	skin:	n/a
32	chr12:122235169-122235219	NH-A	brain:	n/a
33	chr12:122235169-122235219	RPTEC	kidney:	n/a
34	chr12:122235169-122235219	K562	blood:	n/a
35	chr12:122235169-122235219	AG10803	skin:	n/a
36	chr12:122235169-122235219	HCT-116	colon:	n/a
37	chr12:122235169-122235219	HepG2	liver:	n/a
38	chr12:122235169-122235219	IMR90	lung:	fetal
39	chr12:122235169-122235219	HRE	kidney:	n/a
40	chr12:122235169-122235219	BE2_C	brain:	n/a
41	chr12:122235169-122235219	BJ	skin:	n/a
42	chr12:122235169-122235219	HAEpiC	amniotic membrane:	n/a
43	chr12:122235169-122235219	SKMC	muscle:	n/a
44	chr12:122235169-122235219	NB4	blood:	n/a
45	chr12:122235169-122235219	AG04450	lung:	fetal
46	chr12:122235169-122235219	AG09319	gingival:	n/a
47	chr12:122235169-122235219	SAEC	small airway:	n/a
48	chr12:122235169-122235219	PFSK-1	brain:	n/a
49	chr12:122235169-122235219	GM19239	blood:	n/a
50	chr12:122235169-122235219	AoSMC	blood vessel:	n/a

(count:14 , 50 per page) page: 1

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	chr12:120727962..120730106-chr12:122235107..122237468,3	K562	blood:
8	chr12:122235189..122237423-chr17:56708263..56710518,2	MCF-7	breast:
9	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
10	chr12:122235040..122237798-chr4:15655451..15658367,2	MCF-7	breast:
11	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
12	chr12:122233788..122236172-chr12:122398855..122400644,2	MCF-7	breast:
13	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
14	chr12:122232866..122235205-chr12:122514967..122518209,3	K562	blood:

(count:2 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
RHOF	TF binding region
ENSG00000212694	TF binding region
ENSG00000272849	TF binding region
RHOF	CpG island
ENSG00000212694	CpG island
ENSG00000272849	CpG island
ENSG00000256950	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000167515	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000118564	Chromatin interaction
ENSG00000141012	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	chr12:122232200-122235400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:122232200-122236600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:122232400-122236600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:122232800-122235400	Weak transcription	Aorta	Aorta
7	chr12:122232800-122238000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:122233000-122235200	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr12:122233000-122235800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:122233000-122235800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
11	chr12:122233000-122236000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:122233000-122236000	Genic enhancers	Fetal Stomach	stomach
13	chr12:122233000-122236000	Genic enhancers	Fetal Thymus	thymus
14	chr12:122233000-122236800	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr12:122233000-122237000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:122233000-122237200	Genic enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:122233000-122237200	Genic enhancers	Fetal Lung	lung
18	chr12:122233200-122235200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:122233200-122235200	Enhancers	Right Atrium	heart
20	chr12:122233200-122235200	Genic enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:122233200-122235400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:122233200-122235800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:122233200-122236400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:122233200-122236800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:122233200-122236800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:122233200-122237000	Genic enhancers	Spleen	Spleen
27	chr12:122233200-122237200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:122233400-122235400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:122233400-122235600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:122233400-122235800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:122233400-122235800	Weak transcription	GM12878-XiMat	blood
32	chr12:122233400-122236000	Genic enhancers	Dnd41	blood
33	chr12:122233400-122236800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:122233600-122235400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:122233600-122235800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:122233600-122235800	Genic enhancers	Thymus	Thymus
37	chr12:122233800-122235400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:122233800-122235800	Enhancers	Brain Angular Gyrus	brain
39	chr12:122234000-122237000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
40	chr12:122234000-122237600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr12:122234200-122235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:122234200-122235600	Enhancers	Fetal Kidney	kidney
43	chr12:122234200-122236200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr12:122234200-122236400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:122234200-122236400	Flanking Active TSS	Hela-S3	cervix
46	chr12:122234200-122237000	Enhancers	Ovary	ovary
47	chr12:122234200-122237600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:122234400-122235200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:122234400-122235200	Weak transcription	Primary T cells from cord blood	blood
50	chr12:122234400-122235400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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