Variant report

Variant	rs551193080
Chromosome Location	chr1:47081525-47081526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:47081199-47081704	GM12892	blood:	n/a	n/a
2	RCOR1	chr1:47080951-47083959	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:47081453-47083127	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:47081287-47081675	GM12892	blood:	n/a	n/a
5	GABPA	chr1:47081392-47081644	GM12878	blood:	n/a	n/a
6	ELK1	chr1:47081418-47082916	GM12878	blood:	n/a	n/a
7	ELF1	chr1:47081404-47082893	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:47081085-47082992	GM12891	blood:	n/a	n/a
9	CHD2	chr1:47081354-47082855	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr1:47081487-47082958	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:47081083-47082978	GM12878	blood:	n/a	n/a
12	WRNIP1	chr1:47081432-47083222	GM12878	blood:	n/a	n/a
13	MAZ	chr1:47081502-47083027	GM12878	blood:	n/a	n/a
14	RUNX3	chr1:47081318-47082746	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:47081012-47082875	GM19193	blood:	n/a	n/a
16	POLR2A	chr1:47081258-47082998	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:47081358-47081561	GM12878	blood:	n/a	n/a
18	ZC3H11A	chr1:47081386-47081625	K562	blood:	n/a	n/a
19	POLR2A	chr1:47081376-47082947	GM18951	blood:	n/a	n/a
20	POLR2A	chr1:47081283-47081965	GM12878	blood:	n/a	n/a
21	RUNX3	chr1:47081344-47082621	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:47081395-47082943	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:47081355-47082879	GM15510	blood:	n/a	n/a
24	POLR2A	chr1:47081302-47081574	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:47081384-47083061	GM12878	blood:	n/a	n/a
26	MTA3	chr1:47081339-47083135	GM12878	blood:	n/a	n/a
27	MXI1	chr1:47081514-47082986	GM12878	blood:	n/a	n/a
28	HCFC1	chr1:47081522-47081669	K562	blood:	n/a	n/a
29	GABPA	chr1:47081352-47081641	GM12878	blood:	n/a	n/a
30	MAX	chr1:47081491-47082940	GM12878	blood:	n/a	n/a
31	MAZ	chr1:47080667-47083935	IMR90	lung:	n/a	chr1:47083058-47083068
32	POLR2A	chr1:47081243-47083109	GM18505	blood:	n/a	n/a
33	POLR2A	chr1:47081133-47081802	GM12892	blood:	n/a	n/a
34	MAZ	chr1:47081486-47083313	K562	blood:	n/a	chr1:47083058-47083068
35	MXI1	chr1:47081458-47083082	IMR90	lung:	n/a	n/a
36	POLR2A	chr1:47081394-47082950	K562	blood:	n/a	n/a
37	BACH1	chr1:47081522-47081670	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47081524-47081574	BE2_C	brain:	n/a
2	chr1:47081524-47081574	HRPEpiC	eye:	n/a
3	chr1:47081524-47081574	SK-N-MC	brain:	n/a
4	chr1:47081524-47081574	HRE	kidney:	n/a
5	chr1:47081524-47081574	RPTEC	kidney:	n/a
6	chr1:47081524-47081574	H1-hESC	embryonic stem cell:	embryo
7	chr1:47081524-47081574	HIPEpiC	eye:	n/a
8	chr1:47081524-47081574	SAEC	small airway:	n/a
9	chr1:47081524-47081574	K562	blood:	n/a
10	chr1:47081524-47081574	PFSK-1	brain:	n/a
11	chr1:47081524-47081574	HRCEpiC	kidney:	n/a
12	chr1:47081524-47081574	HCF	heart:	n/a
13	chr1:47081524-47081574	Hela-S3	cervix:	n/a
14	chr1:47081524-47081574	HCPEpiC	choroid plexus:	n/a
15	chr1:47081524-47081574	Caco-2	colon:	n/a
16	chr1:47081524-47081574	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:47081524-47081574	GM19239	blood:	n/a
18	chr1:47081524-47081574	GM12878	blood:	n/a
19	chr1:47081524-47081574	U87	brain:	n/a
20	chr1:47081524-47081574	Hepatocyte	liver:	n/a
21	chr1:47081524-47081574	HMEC	breast:	n/a
22	chr1:47081524-47081574	NH-A	brain:	n/a
23	chr1:47081524-47081574	HCT-116	colon:	n/a
24	chr1:47081524-47081574	T-47D	breast:	n/a
25	chr1:47081524-47081574	ECC-1	luminal epithelium:	n/a
26	chr1:47081524-47081574	SK-N-SH_RA	brain:	n/a
27	chr1:47081524-47081574	NB4	blood:	n/a
28	chr1:47081524-47081574	SKMC	muscle:	n/a
29	chr1:47081524-47081574	A549	lung:	n/a
30	chr1:47081524-47081574	HNPCEpiC	eye:	n/a
31	chr1:47081524-47081574	BJ	skin:	n/a
32	chr1:47081524-47081574	GM12892	blood:	n/a
33	chr1:47081524-47081574	GM06990	blood:	n/a
34	chr1:47081524-47081574	HEK293	kidney:	embryo
35	chr1:47081524-47081574	HCM	heart:	n/a
36	chr1:47081524-47081574	PANC-1	pancreas:	n/a
37	chr1:47081524-47081574	ovcar-3	ovarian:	n/a
38	chr1:47081524-47081574	AG09319	gingival:	n/a
39	chr1:47081524-47081574	HL-60	blood:	n/a
40	chr1:47081524-47081574	PrEC	prostate:	n/a
41	chr1:47081524-47081574	AG09309	skin:	n/a
42	chr1:47081524-47081574	LNCaP	prostate:	n/a
43	chr1:47081524-47081574	AG04449	skin:	fetal
44	chr1:47081524-47081574	MCF10A-Er-Src	breast:	n/a
45	chr1:47081524-47081574	GM12891	blood:	n/a
46	chr1:47081524-47081574	AoSMC	blood vessel:	n/a
47	chr1:47081524-47081574	Jurkat	blood:	n/a
48	chr1:47081524-47081574	NHBE	bronchial:	n/a
49	chr1:47081524-47081574	HUVEC	blood vessel:	n/a
50	chr1:47081524-47081574	CMK	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47079661..47082285-chr1:47135813..47137705,2	K562	blood:
2	chr1:47069390..47072755-chr1:47079314..47082367,4	MCF-7	breast:
3	chr1:47080354..47082092-chr1:47110886..47112430,2	MCF-7	breast:
4	chr1:47068429..47072503-chr1:47081068..47085092,4	MCF-7	breast:
5	chr1:47080724..47082396-chr1:47183672..47185631,2	MCF-7	breast:
6	chr1:47077660..47081751-chr1:47132686..47135354,3	MCF-7	breast:
7	chr1:47078421..47080865-chr1:47080975..47083544,2	MCF-7	breast:

No data

Variant related genes	Relation type
MOB3C	TF binding region
MOB3C	CpG island
ENSG00000123472	Chromatin interaction
ENSG00000142961	Chromatin interaction
ENSG00000079277	Chromatin interaction
ENSG00000186118	Chromatin interaction
ENSG00000159658	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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv522319	chr1:47080741-47094267	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47076800-47081800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr1:47077000-47081600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:47077000-47082000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:47077200-47081600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:47077600-47081600	Enhancers	Fetal Heart	heart
6	chr1:47078400-47081600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:47078800-47081800	Enhancers	Spleen	Spleen
8	chr1:47079000-47081600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:47079000-47082000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr1:47079000-47082000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:47079200-47081600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:47079200-47081800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:47079400-47081800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:47079800-47081800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:47080200-47082000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:47080200-47082200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:47080400-47081600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:47080400-47081600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:47080400-47082000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:47080600-47082400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:47080800-47081600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr1:47080800-47081600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:47080800-47081800	Enhancers	Small Intestine	intestine
24	chr1:47080800-47081800	Flanking Active TSS	GM12878-XiMat	blood
25	chr1:47080800-47082000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr1:47080800-47082000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:47080800-47082000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr1:47080800-47082000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:47080800-47082000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr1:47081000-47081600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:47081000-47081600	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr1:47081000-47081600	Flanking Active TSS	NHDF-Ad	bronchial
33	chr1:47081000-47081800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:47081000-47081800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:47081000-47081800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:47081000-47081800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr1:47081000-47081800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:47081000-47081800	Flanking Active TSS	Pancreas	Pancrea
39	chr1:47081000-47081800	Flanking Active TSS	NHLF	lung
40	chr1:47081000-47082000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:47081000-47082000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr1:47081000-47082000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr1:47081000-47082000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:47081000-47082000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:47081000-47082000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:47081000-47082000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr1:47081000-47082000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr1:47081000-47082000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr1:47081000-47082000	Flanking Active TSS	Placenta	Placenta
50	chr1:47081000-47082000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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