Variant report

Variant	rs189119325
Chromosome Location	chr1:113249220-113249221
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	POLR2A	chr1:113249187-113249722	HepG2	liver:	n/a	n/a
2	ZBTB7A	chr1:113249152-113250338	K562	blood:	n/a	chr1:113249486-113249494 chr1:113249525-113249536
3	SIN3A	chr1:113248991-113250599	H1-hESC	embryonic stem cell:	n/a	chr1:113249533-113249544
4	POLR2A	chr1:113248962-113250483	PFSK-1	brain:	n/a	n/a
5	MAZ	chr1:113246923-113250658	IMR90	lung:	n/a	chr1:113247387-113247397 chr1:113248122-113248131
6	ZBTB7A	chr1:113249027-113250567	ECC-1	luminal epithelium:	n/a	chr1:113249486-113249494 chr1:113249525-113249536
7	POLR2A	chr1:113247261-113250309	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:113249114-113250302	U87	brain:	n/a	n/a
9	SMC3	chr1:113249100-113250671	SK-N-SH	brain:	n/a	chr1:113250093-113250107
10	POLR2A	chr1:113249068-113250356	K562	blood:	n/a	n/a
11	HMGN3	chr1:113249185-113250260	K562	blood:	n/a	n/a
12	POLR2A	chr1:113249198-113250175	K562	blood:	n/a	n/a
13	JUN	chr1:113247085-113251456	K562	blood:	n/a	chr1:113248123-113248131 chr1:113247586-113247594 chr1:113248122-113248133 chr1:113247484-113247494 chr1:113247584-113247595 chr1:113248449-113248456
14	POLR2A	chr1:113249205-113249260	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:113247167-113250323	K562	blood:	n/a	n/a
16	CHD2	chr1:113249113-113250890	Hela-S3	cervix:	n/a	chr1:113249970-113249980 chr1:113249390-113249400
17	CCNT2	chr1:113249182-113250249	K562	blood:	n/a	chr1:113249358-113249367
18	POLR2A	chr1:113249118-113250190	K562	blood:	n/a	n/a
19	MAZ	chr1:113249175-113250262	GM12878	blood:	n/a	n/a
20	UBTF	chr1:113247221-113250349	K562	blood:	n/a	n/a
21	POLR2A	chr1:113249145-113250234	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr1:113249043-113250302	U87	brain:	n/a	n/a
23	SMARCB1	chr1:113247096-113250480	Hela-S3	cervix:	n/a	chr1:113247585-113247594
24	RAD21	chr1:113249066-113250478	SK-N-SH	brain:	n/a	chr1:113250089-113250108 chr1:113250225-113250234
25	NR2F2	chr1:113247087-113250506	K562	blood:	n/a	n/a
26	SMARCC1	chr1:113247047-113250566	Hela-S3	cervix:	n/a	chr1:113247585-113247594
27	POLR2A	chr1:113246180-113250420	HUVEC	blood vessel:	n/a	n/a
28	ELF1	chr1:113249099-113250315	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:113248891-113250457	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:113247015-113250256	IMR90	lung:	n/a	n/a
31	POLR2A	chr1:113249113-113250438	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr1:113246963-113250480	HUVEC	blood vessel:	n/a	n/a
33	UBTF	chr1:113249179-113250293	K562	blood:	n/a	n/a
34	POLR2A	chr1:113249128-113250273	HUVEC	blood vessel:	n/a	n/a
35	ZBTB7A	chr1:113249128-113250433	ECC-1	luminal epithelium:	n/a	chr1:113249486-113249494 chr1:113249525-113249536
36	YY1	chr1:113249156-113250232	K562	blood:	n/a	chr1:113249344-113249358 chr1:113249358-113249369 chr1:113249676-113249687
37	GABPA	chr1:113249091-113250302	K562	blood:	n/a	n/a
38	SIN3AK20	chr1:113249075-113250261	PANC-1	pancreas:	n/a	n/a
39	ZBTB7A	chr1:113249125-113250331	K562	blood:	n/a	chr1:113249486-113249494 chr1:113249525-113249536
40	ZNF263	chr1:113246407-113250683	HEK293-T-REx	kidney:	n/a	chr1:113247538-113247547 chr1:113247695-113247704 chr1:113247825-113247834 chr1:113247380-113247389
41	POLR2A	chr1:113246236-113250578	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:113159779..113171222-chr1:113238237..113251191,41	K562	blood:
2	chr1:113248698..113251078-chr1:113932422..113935147,2	MCF-7	breast:
3	chr1:113160723..113165170-chr1:113245654..113250392,12	K562	blood:
4	chr1:113246571..113250786-chr1:113261233..113263716,3	K562	blood:
5	chr1:112938761..112941761-chr1:113247568..113249753,3	MCF-7	breast:
6	chr1:113214866..113222565-chr1:113237012..113253952,54	K562	blood:
7	chr1:113156399..113165396-chr1:113241191..113253782,55	MCF-7	breast:
8	chr1:113214590..113222957-chr1:113244863..113253590,39	MCF-7	breast:
9	chr1:113167976..113172227-chr1:113246480..113250465,5	K562	blood:
10	chr1:112933576..112940137-chr1:113246857..113251993,14	MCF-7	breast:
11	chr1:113008643..113012570-chr1:113247176..113250622,4	MCF-7	breast:
12	chr1:113193696..113198407-chr1:113243250..113250056,8	K562	blood:
13	chr1:113167944..113171007-chr1:113245720..113249508,3	MCF-7	breast:
14	chr1:113214002..113222947-chr1:113236890..113251579,47	MCF-7	breast:
15	chr1:113156746..113166477-chr1:113240630..113253423,46	MCF-7	breast:

Variant related genes	Relation type
RHOC	TF binding region
ENSG00000155363	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000184599	Chromatin interaction
ENSG00000238975	Chromatin interaction
ENSG00000134245	Chromatin interaction
ENSG00000143079	Chromatin interaction
ENSG00000081026	Chromatin interaction
ENSG00000235299	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	esv18511	chr1:113246318-113350775	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv998794	chr1:113246630-113310418	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv872157	chr1:113247467-113265819	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv547566	chr1:113248365-113301657	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	esv3358595	chr1:113248454-113251002	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv2414426	chr1:113248909-113249287	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113246800-113249600	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr1:113246800-113249600	Flanking Active TSS	Dnd41	blood
3	chr1:113247000-113249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:113247200-113249400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:113247200-113249400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:113247200-113250400	Active TSS	Aorta	Aorta
7	chr1:113247400-113249600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:113247400-113250200	Active TSS	Psoas Muscle	Psoas
9	chr1:113247400-113250400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:113247400-113250400	Active TSS	Ovary	ovary
11	chr1:113247400-113250400	Active TSS	Right Atrium	heart
12	chr1:113247400-113250400	Active TSS	A549	lung
13	chr1:113247600-113249600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr1:113247600-113250200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:113247600-113250400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:113247600-113250400	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr1:113247600-113250600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:113247800-113250000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:113248000-113250200	Active TSS	Placenta Amnion	Placenta Amnion
20	chr1:113248000-113250200	Active TSS	NHLF	lung
21	chr1:113248000-113250400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:113248200-113250600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:113248400-113249600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:113248400-113250200	Active TSS	Fetal Kidney	kidney
25	chr1:113248600-113250000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:113248600-113250000	Active TSS	HMEC	breast
27	chr1:113248600-113250200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:113248600-113250200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:113248600-113250200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:113248600-113250200	Active TSS	Brain Anterior Caudate	brain
31	chr1:113248600-113250200	Active TSS	Lung	lung
32	chr1:113248600-113250200	Active TSS	HSMM	muscle
33	chr1:113248600-113250200	Active TSS	NHDF-Ad	bronchial
34	chr1:113248600-113250400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:113248600-113250400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr1:113248800-113249400	Active TSS	Brain Germinal Matrix	brain
37	chr1:113248800-113249600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:113248800-113249600	Active TSS	Stomach Mucosa	stomach
39	chr1:113248800-113250000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:113248800-113250000	Active TSS	Gastric	stomach
41	chr1:113248800-113250000	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr1:113248800-113250200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:113248800-113250200	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr1:113248800-113250200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:113248800-113250200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:113248800-113250200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:113248800-113250200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:113248800-113250200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:113248800-113250200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:113248800-113250200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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