Variant report

Variant	rs550586612
Chromosome Location	chr12:122239018-122239019
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	ELF1	chr12:122238765-122239124	K562	blood:	n/a	n/a
2	STAT5A	chr12:122238651-122241749	GM12878	blood:	n/a	chr12:122241725-122241737 chr12:122241729-122241741 chr12:122239925-122239937
3	POLR2A	chr12:122237649-122240329	GM12891	blood:	n/a	n/a
4	YY1	chr12:122238408-122239193	HepG2	liver:	n/a	chr12:122238941-122238955 chr12:122238598-122238620 chr12:122238449-122238463 chr12:122239000-122239017 chr12:122238514-122238528
5	SMARCB1	chr12:122237254-122239415	Hela-S3	cervix:	n/a	n/a
6	TAF1	chr12:122238700-122239559	MCF-7	breast:	n/a	n/a
7	YY1	chr12:122238345-122239212	SK-N-SH_RA	brain:	n/a	chr12:122238941-122238955 chr12:122238598-122238620 chr12:122238449-122238463 chr12:122239000-122239017 chr12:122238514-122238528
8	SP1	chr12:122238650-122239497	A549	lung:	n/a	chr12:122239330-122239340 chr12:122239329-122239341 chr12:122239331-122239340 chr12:122239330-122239339 chr12:122239330-122239344 chr12:122239329-122239341
9	CHD1	chr12:122237651-122241677	IMR90	lung:	n/a	chr12:122239946-122239956 chr12:122238495-122238505
10	REST	chr12:122238388-122240079	HL-60	blood:	n/a	chr12:122238975-122238995 chr12:122239330-122239343 chr12:122238885-122238898 chr12:122238953-122238966 chr12:122238960-122238969 chr12:122239946-122239956
11	MAX	chr12:122237963-122239563	ECC-1	luminal epithelium:	n/a	chr12:122238516-122238525 chr12:122239330-122239340
12	POLR2A	chr12:122234779-122241623	PANC-1	pancreas:	n/a	n/a
13	YY1	chr12:122238431-122239228	GM12892	blood:	n/a	chr12:122238941-122238955 chr12:122238598-122238620 chr12:122238449-122238463 chr12:122239000-122239017 chr12:122238514-122238528
14	POLR2A	chr12:122237411-122240170	NB4	blood:	n/a	n/a
15	TAF1	chr12:122238798-122239122	SK-N-SH	brain:	n/a	n/a
16	MXI1	chr12:122238878-122239145	K562	blood:	n/a	n/a
17	GATA3	chr12:122237158-122239271	A549	lung:	n/a	chr12:122238803-122238813
18	RFX5	chr12:122238860-122239119	Hela-S3	cervix:	n/a	n/a
19	MAX	chr12:122237865-122239062	A549	lung:	n/a	chr12:122238516-122238525
20	RELA	chr12:122237812-122239269	GM12891	blood:	n/a	n/a
21	POLR2A	chr12:122234803-122242201	K562	blood:	n/a	n/a
22	MAX	chr12:122237968-122239121	HepG2	liver:	n/a	chr12:122238516-122238525
23	POLR2A	chr12:122238814-122241184	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:122237652-122240363	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr12:122237348-122240348	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:122237781-122239516	GM12878	blood:	n/a	n/a
27	YY1	chr12:122237802-122240042	K562	blood:	n/a	chr12:122238941-122238955 chr12:122238063-122238077 chr12:122238598-122238620 chr12:122238344-122238358 chr12:122238449-122238463 chr12:122239000-122239017 chr12:122238514-122238528
28	POLR2A	chr12:122229522-122241538	HepG2	liver:	n/a	n/a
29	PML	chr12:122238872-122239072	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:122237643-122239558	A549	lung:	n/a	n/a
31	TAF1	chr12:122238783-122239163	PFSK-1	brain:	n/a	n/a
32	E2F6	chr12:122237867-122239210	K562	blood:	n/a	chr12:122238068-122238077 chr12:122238604-122238614 chr12:122238612-122238623 chr12:122238602-122238613 chr12:122238605-122238614 chr12:122238606-122238613 chr12:122238606-122238613 chr12:122238603-122238618 chr12:122238606-122238613 chr12:122238603-122238614 chr12:122238605-122238613 chr12:122238605-122238613 chr12:122239045-122239054 chr12:122238612-122238623
33	USF2	chr12:122238974-122239138	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr12:122234637-122245085	SK-N-SH	brain:	n/a	n/a
35	MAFK	chr12:122238815-122239219	K562	blood:	n/a	n/a
36	TBL1XR1	chr12:122238775-122239456	K562	blood:	n/a	n/a
37	TBP	chr12:122237079-122242074	K562	blood:	n/a	chr12:122237265-122237276
38	POLR2A	chr12:122237225-122242923	GM18505	blood:	n/a	n/a
39	POLR2A	chr12:122237473-122240029	HL-60	blood:	n/a	n/a
40	MAX	chr12:122237738-122239183	GM12878	blood:	n/a	chr12:122238516-122238525
41	CTCF	chr12:122239000-122239150	Caco-2	colon:	n/a	n/a
42	POLR2A	chr12:122234794-122240414	K562	blood:	n/a	n/a
43	TAF1	chr12:122238411-122239220	GM12891	blood:	n/a	n/a
44	YY1	chr12:122238844-122239106	HCT-116	colon:	n/a	chr12:122238941-122238955 chr12:122239000-122239017
45	POLR2A	chr12:122237818-122241495	HUVEC	blood vessel:	n/a	n/a
46	YY1	chr12:122238365-122239209	HCT-116	colon:	n/a	chr12:122238941-122238955 chr12:122238598-122238620 chr12:122238449-122238463 chr12:122239000-122239017 chr12:122238514-122238528
47	TEAD4	chr12:122237676-122239354	SK-N-SH	brain:	n/a	n/a
48	ELK1	chr12:122238924-122239086	K562	blood:	n/a	n/a
49	BRCA1	chr12:122238858-122239019	Hela-S3	cervix:	n/a	n/a
50	REST	chr12:122238526-122239144	ECC-1	luminal epithelium:	n/a	chr12:122238975-122238995 chr12:122238885-122238898 chr12:122238953-122238966 chr12:122238960-122238969

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122239014-122239064	HNPCEpiC	eye:	n/a
2	chr12:122239014-122239064	PANC-1	pancreas:	n/a
3	chr12:122239014-122239064	NH-A	brain:	n/a
4	chr12:122239014-122239064	HepG2	liver:	n/a
5	chr12:122239014-122239064	HCM	heart:	n/a
6	chr12:122239014-122239064	IMR90	lung:	fetal
7	chr12:122239014-122239064	HRPEpiC	eye:	n/a
8	chr12:122239014-122239064	A549	lung:	n/a
9	chr12:122239014-122239064	AG09319	gingival:	n/a
10	chr12:122239014-122239064	HMEC	breast:	n/a
11	chr12:122239014-122239064	PFSK-1	brain:	n/a
12	chr12:122239014-122239064	HCPEpiC	choroid plexus:	n/a
13	chr12:122239014-122239064	HEEpiC	esophagus:	n/a
14	chr12:122239014-122239064	Hela-S3	cervix:	n/a
15	chr12:122239014-122239064	H1-hESC	embryonic stem cell:	embryo
16	chr12:122239014-122239064	AG04450	lung:	fetal
17	chr12:122239014-122239064	BJ	skin:	n/a
18	chr12:122239014-122239064	ECC-1	luminal epithelium:	n/a
19	chr12:122239014-122239064	BE2_C	brain:	n/a
20	chr12:122239014-122239064	SK-N-SH_RA	brain:	n/a
21	chr12:122239014-122239064	GM19239	blood:	n/a
22	chr12:122239014-122239064	HEK293	kidney:	embryo
23	chr12:122239014-122239064	CMK	blood:	n/a
24	chr12:122239014-122239064	NHBE	bronchial:	n/a
25	chr12:122239014-122239064	HL-60	blood:	n/a
26	chr12:122239014-122239064	LNCaP	prostate:	n/a
27	chr12:122239014-122239064	AG04449	skin:	fetal
28	chr12:122239014-122239064	MCF-7	breast:	n/a
29	chr12:122239014-122239064	Jurkat	blood:	n/a
30	chr12:122239014-122239064	NT2-D1	testis:	n/a
31	chr12:122239014-122239064	K562	blood:	n/a
32	chr12:122239014-122239064	ovcar-3	ovarian:	n/a
33	chr12:122239014-122239064	HAEpiC	amniotic membrane:	n/a
34	chr12:122239014-122239064	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:122239014-122239064	AG10803	skin:	n/a
36	chr12:122239014-122239064	SKMC	muscle:	n/a
37	chr12:122239014-122239064	Hepatocyte	liver:	n/a
38	chr12:122239014-122239064	HCT-116	colon:	n/a
39	chr12:122239014-122239064	PrEC	prostate:	n/a
40	chr12:122239014-122239064	RPTEC	kidney:	n/a
41	chr12:122239014-122239064	AoSMC	blood vessel:	n/a
42	chr12:122239014-122239064	MCF10A-Er-Src	breast:	n/a
43	chr12:122239014-122239064	Caco-2	colon:	n/a
44	chr12:122239014-122239064	U87	brain:	n/a
45	chr12:122239014-122239064	SAEC	small airway:	n/a
46	chr12:122239014-122239064	GM12892	blood:	n/a
47	chr12:122239014-122239064	HUVEC	blood vessel:	n/a
48	chr12:122239014-122239064	HCF	heart:	n/a
49	chr12:122239014-122239064	SK-N-MC	brain:	n/a
50	chr12:122239014-122239064	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122237414..122239746-chr17:48943458..48945237,2	MCF-7	breast:
2	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
3	chr12:122063594..122065295-chr12:122238095..122240834,2	K562	blood:
4	chr12:122237332..122242839-chr17:57920693..57925352,4	MCF-7	breast:
5	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
6	chr12:122188399..122190349-chr12:122238122..122239651,2	K562	blood:
7	chr12:122018588..122021080-chr12:122238013..122240517,2	MCF-7	breast:
8	chr12:122238900..122240438-chr6:136610251..136612271,2	MCF-7	breast:
9	chr12:122237028..122239073-chr12:122370482..122372481,2	K562	blood:
10	chr1:109742058..109743867-chr12:122238277..122239989,2	MCF-7	breast:
11	chr12:121837219..121839609-chr12:122238728..122241051,2	MCF-7	breast:
12	chr12:122238079..122240131-chr17:59487111..59490038,2	MCF-7	breast:
13	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
14	chr12:122237348..122239673-chr20:55840196..55842949,3	MCF-7	breast:
15	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
16	chr11:118965715..118967362-chr12:122238172..122240482,2	MCF-7	breast:
17	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
18	chr12:122238562..122240078-chr20:52823765..52826004,2	MCF-7	breast:
19	chr12:122063273..122066310-chr12:122238266..122240909,4	MCF-7	breast:
20	chr12:122237535..122239175-chr12:122615954..122617703,2	MCF-7	breast:
21	chr1:180122867..180124515-chr12:122237701..122240027,2	MCF-7	breast:
22	chr12:122237524..122241121-chr12:122501436..122503777,3	K562	blood:
23	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
24	chr12:122237910..122239511-chrX:153599147..153600887,2	MCF-7	breast:
25	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:
26	chr12:122238688..122240991-chr6:27775066..27777926,2	MCF-7	breast:
27	chr12:122238851..122241051-chr8:145148871..145151481,2	MCF-7	breast:
28	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
29	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
30	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:
31	chr12:121974810..121976577-chr12:122237441..122239422,3	MCF-7	breast:
32	chr12:122238420..122240403-chr5:140026745..140028353,2	MCF-7	breast:
33	chr12:122237524..122241320-chr12:122500575..122503777,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOF-1	chr12:122235738-122239714	NONHSAT031462

Variant related genes	Relation type
RHOF	TF binding region
SETD1B	TF binding region
ENSG00000212694	TF binding region
RHOF	CpG island
ENSG00000212694	CpG island
SETD1B	CpG island
ENSG00000175727	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000188486	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000131495	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000116299	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000113141	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000179091	Chromatin interaction
ENSG00000264052	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000029363	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000255856	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000116260	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000256742	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3331230	chr12:122237769-122239717	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 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	chr12:122235200-122245400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:122235400-122239800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
3	chr12:122235800-122239400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
4	chr12:122236800-122245000	Active TSS	Aorta	Aorta
5	chr12:122237000-122239400	Active TSS	HSMMtube	muscle
6	chr12:122237000-122240000	Active TSS	Gastric	stomach
7	chr12:122237000-122240800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr12:122237000-122243800	Active TSS	Psoas Muscle	Psoas
9	chr12:122237200-122239600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr12:122237200-122239600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:122237200-122241600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:122237200-122243800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:122237200-122243800	Active TSS	Brain Angular Gyrus	brain
14	chr12:122237200-122243800	Active TSS	Esophagus	oesophagus
15	chr12:122237200-122243800	Active TSS	Left Ventricle	heart
16	chr12:122237200-122243800	Active TSS	Right Ventricle	heart
17	chr12:122237200-122243800	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr12:122237200-122244600	Active TSS	Small Intestine	intestine
19	chr12:122237400-122239600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:122237400-122243600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:122237400-122243600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:122237400-122243600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:122237400-122243800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:122237400-122243800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr12:122237400-122243800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:122237400-122243800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:122237400-122243800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:122237400-122243800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:122237400-122243800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:122237400-122243800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr12:122237400-122243800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:122237400-122243800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr12:122237400-122243800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:122237400-122243800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:122237400-122243800	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr12:122237400-122243800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr12:122237400-122243800	Active TSS	Liver	Liver
38	chr12:122237400-122243800	Active TSS	Colon Smooth Muscle	Colon
39	chr12:122237400-122243800	Active TSS	Duodenum Mucosa	Duodenum
40	chr12:122237400-122243800	Active TSS	Fetal Brain Female	brain
41	chr12:122237400-122243800	Active TSS	Fetal Intestine Large	intestine
42	chr12:122237400-122243800	Active TSS	Pancreas	Pancrea
43	chr12:122237400-122243800	Active TSS	Rectal Smooth Muscle	rectum
44	chr12:122237400-122243800	Active TSS	GM12878-XiMat	blood
45	chr12:122237400-122243800	Active TSS	K562	blood
46	chr12:122237400-122244400	Active TSS	Thymus	Thymus
47	chr12:122237400-122244600	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr12:122237600-122239200	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:122237600-122239400	Active TSS	HSMM	muscle
50	chr12:122237600-122239400	Active TSS	Monocytes-CD14+_RO01746	blood

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