Variant report

Variant	rs549700317
Chromosome Location	chr12:122241515-122241516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr12:122240445-122241649	HCT-116	colon:	n/a	n/a
2	STAT5A	chr12:122238651-122241749	GM12878	blood:	n/a	chr12:122241725-122241737 chr12:122241729-122241741 chr12:122239925-122239937
3	YY1	chr12:122240550-122241565	GM12891	blood:	n/a	chr12:122241466-122241480 chr12:122241107-122241124
4	CHD1	chr12:122237651-122241677	IMR90	lung:	n/a	chr12:122239946-122239956 chr12:122238495-122238505
5	POLR2A	chr12:122234779-122241623	PANC-1	pancreas:	n/a	n/a
6	SRF	chr12:122241246-122241562	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:122240608-122241662	GM12878	blood:	n/a	n/a
8	EP300	chr12:122240669-122241576	SK-N-SH	brain:	n/a	n/a
9	RUNX3	chr12:122240542-122241544	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:122240594-122242152	K562	blood:	n/a	n/a
11	POLR2A	chr12:122234803-122242201	K562	blood:	n/a	n/a
12	HEY1	chr12:122240450-122241653	K562	blood:	n/a	chr12:122241596-122241611
13	MYC	chr12:122240638-122241604	K562	blood:	n/a	chr12:122241239-122241249
14	REST	chr12:122240495-122241675	HL-60	blood:	n/a	n/a
15	POLR2A	chr12:122239317-122242092	HCT-116	colon:	n/a	n/a
16	CCNT2	chr12:122240707-122242984	K562	blood:	n/a	chr12:122242533-122242542 chr12:122241655-122241664 chr12:122241758-122241767 chr12:122242926-122242935 chr12:122241677-122241686
17	POLR2A	chr12:122229522-122241538	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:122240582-122241519	GM12878	blood:	n/a	n/a
19	MXI1	chr12:122234637-122245085	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr12:122240670-122241645	A549	lung:	n/a	n/a
21	MAX	chr12:122240737-122241546	K562	blood:	n/a	chr12:122241239-122241249
22	TBP	chr12:122237079-122242074	K562	blood:	n/a	chr12:122237265-122237276
23	POLR2A	chr12:122237225-122242923	GM18505	blood:	n/a	n/a
24	TAF1	chr12:122240497-122241650	H1-hESC	embryonic stem cell:	n/a	n/a
25	NFIC	chr12:122239167-122241515	GM12878	blood:	n/a	n/a
26	MXI1	chr12:122240530-122245335	IMR90	lung:	n/a	n/a
27	ZBTB7A	chr12:122240823-122241926	K562	blood:	n/a	n/a
28	ZBTB7A	chr12:122241240-122241532	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:122240424-122242159	ECC-1	luminal epithelium:	n/a	n/a
30	CBX3	chr12:122240541-122241544	K562	blood:	n/a	n/a
31	POLR2A	chr12:122236872-122242965	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr12:122240776-122241556	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr12:122240610-122241646	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr12:122240387-122242151	K562	blood:	n/a	n/a
35	TAF1	chr12:122240612-122241533	SK-N-SH	brain:	n/a	n/a
36	SIN3AK20	chr12:122240408-122242086	MCF-7	breast:	n/a	n/a
37	TEAD4	chr12:122240660-122241624	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr12:122237373-122242890	GM19099	blood:	n/a	n/a
39	POLR2A	chr12:122231231-122242190	PANC-1	pancreas:	n/a	n/a
40	MAZ	chr12:122240586-122242185	K562	blood:	n/a	n/a
41	SIN3AK20	chr12:122240375-122242176	MCF-7	breast:	n/a	n/a
42	YY1	chr12:122240436-122241680	A549	lung:	n/a	chr12:122241466-122241480 chr12:122241107-122241124
43	POLR2A	chr12:122240703-122242351	MCF-7	breast:	n/a	n/a
44	TBP	chr12:122237655-122241987	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:122241143-122241535	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:122237714-122241584	SK-N-SH	brain:	n/a	n/a
47	REST	chr12:122236903-122243598	H1-neurons	neurons:	n/a	chr12:122238975-122238995 chr12:122239330-122239343 chr12:122238885-122238898 chr12:122238953-122238966 chr12:122242500-122242508 chr12:122238960-122238969 chr12:122239946-122239956
48	POLR2A	chr12:122240429-122241557	GM12892	blood:	n/a	n/a
49	TEAD4	chr12:122240230-122241523	K562	blood:	n/a	n/a
50	TCF12	chr12:122240690-122241657	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122241475-122241525	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:122241475-122241525	AG09319	gingival:	n/a
3	chr12:122241475-122241525	HNPCEpiC	eye:	n/a
4	chr12:122241475-122241525	HRPEpiC	eye:	n/a
5	chr12:122241475-122241525	HEEpiC	esophagus:	n/a
6	chr12:122241475-122241525	A549	lung:	n/a
7	chr12:122241475-122241525	AG04449	skin:	fetal
8	chr12:122241475-122241525	HMEC	breast:	n/a
9	chr12:122241475-122241525	HCF	heart:	n/a
10	chr12:122241475-122241525	ECC-1	luminal epithelium:	n/a
11	chr12:122241475-122241525	HIPEpiC	eye:	n/a
12	chr12:122241475-122241525	AG04450	lung:	fetal
13	chr12:122241475-122241525	GM12878	blood:	n/a
14	chr12:122241475-122241525	U87	brain:	n/a
15	chr12:122241475-122241525	AG09309	skin:	n/a
16	chr12:122241475-122241525	BE2_C	brain:	n/a
17	chr12:122241475-122241525	GM19239	blood:	n/a
18	chr12:122241475-122241525	BJ	skin:	n/a
19	chr12:122241475-122241525	HCM	heart:	n/a
20	chr12:122241475-122241525	ProgFib	skin:	n/a
21	chr12:122241475-122241525	HCPEpiC	choroid plexus:	n/a
22	chr12:122241475-122241525	SKMC	muscle:	n/a
23	chr12:122241475-122241525	PFSK-1	brain:	n/a
24	chr12:122241475-122241525	HUVEC	blood vessel:	n/a
25	chr12:122241475-122241525	IMR90	lung:	fetal
26	chr12:122241475-122241525	RPTEC	kidney:	n/a
27	chr12:122241475-122241525	HL-60	blood:	n/a
28	chr12:122241475-122241525	PANC-1	pancreas:	n/a
29	chr12:122241475-122241525	Hela-S3	cervix:	n/a
30	chr12:122241475-122241525	NB4	blood:	n/a
31	chr12:122241475-122241525	AoSMC	blood vessel:	n/a
32	chr12:122241475-122241525	H1-hESC	embryonic stem cell:	embryo
33	chr12:122241475-122241525	NT2-D1	testis:	n/a
34	chr12:122241475-122241525	HRE	kidney:	n/a
35	chr12:122241475-122241525	NHDF-neo	bronchial:	n/a
36	chr12:122241475-122241525	AG10803	skin:	n/a
37	chr12:122241475-122241525	PrEC	prostate:	n/a
38	chr12:122241475-122241525	GM06990	blood:	n/a
39	chr12:122241475-122241525	SK-N-MC	brain:	n/a
40	chr12:122241475-122241525	MCF-7	breast:	n/a
41	chr12:122241475-122241525	Hepatocyte	liver:	n/a
42	chr12:122241475-122241525	HEK293	kidney:	embryo
43	chr12:122241475-122241525	LNCaP	prostate:	n/a
44	chr12:122241475-122241525	HepG2	liver:	n/a
45	chr12:122241475-122241525	MCF10A-Er-Src	breast:	n/a
46	chr12:122241475-122241525	HCT-116	colon:	n/a
47	chr12:122241475-122241525	SAEC	small airway:	n/a
48	chr12:122241475-122241525	GM12891	blood:	n/a
49	chr12:122241475-122241525	Caco-2	colon:	n/a
50	chr12:122241475-122241525	HRCEpiC	kidney:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122240927..122243222-chr6:27775692..27777449,2	MCF-7	breast:
2	chr12:53341228..53343679-chr12:122240753..122243442,2	MCF-7	breast:
3	chr12:122239996..122242315-chr12:122299933..122302886,2	MCF-7	breast:
4	chr12:122240766..122242888-chr17:59476165..59478324,2	MCF-7	breast:
5	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
6	chr12:122240075..122242240-chr15:93426091..93428308,2	K562	blood:
7	chr12:122240928..122242947-chr12:122294701..122297543,2	MCF-7	breast:
8	chr12:122237332..122242839-chr17:57920693..57925352,4	MCF-7	breast:
9	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
10	chr12:122240911..122241575-chr15:77363083..77363808,2	NB4	blood:
11	chr12:122241026..122243237-chr12:122983167..122985698,2	K562	blood:
12	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
13	chr12:122241012..122243645-chr12:122353946..122355842,2	MCF-7	breast:
14	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
15	chr12:122239215..122242374-chr17:57923941..57927406,3	MCF-7	breast:
16	chr12:122240859..122242424-chr12:122459366..122461446,2	K562	blood:
17	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
18	chr12:122241439..122242032-chr19:2475682..2476352,2	Hela-S3	cervix:
19	chr12:122240924..122242640-chr12:122459339..122461446,2	K562	blood:
20	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
21	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
22	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOF-1	chr12:122241436-122241812	ENSG00000212694.4
2	lnc-RHOF-1	chr12:122240537-122241680	NONHSAT031455
3	lnc-RHOF-1	chr12:122240785-122241674	NONHSAT031462

No data

Variant related genes	Relation type
RHOF	TF binding region
SETD1B	TF binding region
ENSG00000212694	TF binding region
SETD1B	CpG island
RHOF	CpG island
ENSG00000212694	CpG island
ENSG00000196747	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000111057	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000099860	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000272888	Chromatin interaction
ENSG00000158104	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000140391	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000201524	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3363236	chr12:122240069-122243467	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	esv3407741	chr12:122240594-122243442	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
9	esv3344041	chr12:122240869-122244017	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr12:122236800-122245000	Active TSS	Aorta	Aorta
3	chr12:122237000-122243800	Active TSS	Psoas Muscle	Psoas
4	chr12:122237200-122241600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:122237200-122243800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:122237200-122243800	Active TSS	Brain Angular Gyrus	brain
7	chr12:122237200-122243800	Active TSS	Esophagus	oesophagus
8	chr12:122237200-122243800	Active TSS	Left Ventricle	heart
9	chr12:122237200-122243800	Active TSS	Right Ventricle	heart
10	chr12:122237200-122243800	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr12:122237200-122244600	Active TSS	Small Intestine	intestine
12	chr12:122237400-122243600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:122237400-122243600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:122237400-122243600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:122237400-122243800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:122237400-122243800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:122237400-122243800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:122237400-122243800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:122237400-122243800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:122237400-122243800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:122237400-122243800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:122237400-122243800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:122237400-122243800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:122237400-122243800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:122237400-122243800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:122237400-122243800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:122237400-122243800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr12:122237400-122243800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr12:122237400-122243800	Active TSS	Liver	Liver
30	chr12:122237400-122243800	Active TSS	Colon Smooth Muscle	Colon
31	chr12:122237400-122243800	Active TSS	Duodenum Mucosa	Duodenum
32	chr12:122237400-122243800	Active TSS	Fetal Brain Female	brain
33	chr12:122237400-122243800	Active TSS	Fetal Intestine Large	intestine
34	chr12:122237400-122243800	Active TSS	Pancreas	Pancrea
35	chr12:122237400-122243800	Active TSS	Rectal Smooth Muscle	rectum
36	chr12:122237400-122243800	Active TSS	GM12878-XiMat	blood
37	chr12:122237400-122243800	Active TSS	K562	blood
38	chr12:122237400-122244400	Active TSS	Thymus	Thymus
39	chr12:122237400-122244600	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr12:122237600-122241600	Active TSS	Stomach Mucosa	stomach
41	chr12:122237600-122242600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:122237600-122243600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:122237600-122243800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:122237600-122243800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr12:122237600-122243800	Active TSS	Brain Anterior Caudate	brain
46	chr12:122237600-122243800	Active TSS	Brain Cingulate Gyrus	brain
47	chr12:122237600-122243800	Active TSS	Brain Hippocampus Middle	brain
48	chr12:122237600-122243800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:122237600-122243800	Active TSS	Lung	lung
50	chr12:122237600-122243800	Active TSS	Rectal Mucosa Donor 29	rectum

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