Variant report

Variant	rs183530131
Chromosome Location	chr1:180123322-180123323
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:180122889-180123878	SK-N-SH	brain:	n/a	n/a
2	HEY1	chr1:180123299-180124184	HepG2	liver:	n/a	chr1:180123698-180123713
3	POLR2A	chr1:180122966-180123901	HL-60	blood:	n/a	n/a
4	WRNIP1	chr1:180123109-180123852	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:180123211-180124255	GM18505	blood:	n/a	n/a
6	MYC	chr1:180123258-180124332	NB4	blood:	n/a	n/a
7	MXI1	chr1:180123165-180124738	GM12878	blood:	n/a	chr1:180123364-180123379 chr1:180123945-180123954 chr1:180124358-180124367
8	POLR2A	chr1:180123249-180123873	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:180123195-180124269	GM19099	blood:	n/a	n/a
10	NR2F2	chr1:180123191-180123857	K562	blood:	n/a	n/a
11	JUND	chr1:180123048-180124218	K562	blood:	n/a	n/a
12	ATF3	chr1:180123202-180123883	A549	lung:	n/a	n/a
13	SIN3A	chr1:180123052-180125035	H1-hESC	embryonic stem cell:	n/a	chr1:180123821-180123834 chr1:180123945-180123954
14	POLR2A	chr1:180122896-180124310	PBDE	blood:	n/a	n/a
15	MAZ	chr1:180123089-180125392	IMR90	lung:	n/a	n/a
16	MYC	chr1:180123270-180124203	H1-hESC	embryonic stem cell:	n/a	n/a
17	POU2F2	chr1:180123112-180123888	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:180123135-180124468	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr1:180123320-180124214	U87	brain:	n/a	n/a
20	TEAD4	chr1:180123104-180123854	K562	blood:	n/a	n/a
21	POLR2A	chr1:180122678-180124264	MCF10A-Er-Src	breast:	n/a	n/a
22	ELF1	chr1:180123165-180124095	HCT-116	colon:	n/a	chr1:180123984-180123996
23	POLR2A	chr1:180123195-180124541	GM15510	blood:	n/a	n/a
24	TAF1	chr1:180123263-180124346	MCF-7	breast:	n/a	n/a
25	FOSL2	chr1:180123279-180123759	A549	lung:	n/a	n/a
26	MAX	chr1:180123056-180124751	K562	blood:	n/a	n/a
27	POLR2A	chr1:180123178-180124246	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:180122604-180124286	PANC-1	pancreas:	n/a	n/a
29	MAX	chr1:180123320-180124978	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:180122827-180124275	NB4	blood:	n/a	n/a
31	GABPA	chr1:180123128-180123872	MCF-7	breast:	n/a	n/a
32	ELK1	chr1:180123150-180124152	Hela-S3	cervix:	n/a	n/a
33	BCL3	chr1:180123234-180123846	A549	lung:	n/a	n/a
34	POLR2A	chr1:180122547-180123875	PANC-1	pancreas:	n/a	n/a
35	ZNF143	chr1:180123082-180123850	K562	blood:	n/a	chr1:180123739-180123757
36	POLR2A	chr1:180123026-180124326	HL-60	blood:	n/a	n/a
37	ZBTB7A	chr1:180123280-180123931	ECC-1	luminal epithelium:	n/a	chr1:180123509-180123520 chr1:180123508-180123519
38	CHD1	chr1:180122641-180127045	IMR90	lung:	n/a	chr1:180124562-180124572
39	MAX	chr1:180123285-180124810	HepG2	liver:	n/a	n/a
40	MAZ	chr1:180123202-180124221	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:180123315-180124364	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:180122937-180124249	GM12891	blood:	n/a	n/a
43	POLR2A	chr1:180122896-180124361	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr1:180122713-180124263	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr1:180123112-180124679	Hela-S3	cervix:	n/a	n/a
46	TBL1XR1	chr1:180123173-180124236	K562	blood:	n/a	n/a
47	POLR2A	chr1:180123032-180124257	K562	blood:	n/a	n/a
48	POLR2A	chr1:180123116-180124483	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr1:180123302-180124256	HCT-116	colon:	n/a	n/a
50	RCOR1	chr1:180123179-180124205	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180123317-180123367	HMEC	breast:	n/a
2	chr1:180123317-180123367	NH-A	brain:	n/a
3	chr1:180123317-180123367	HL-60	blood:	n/a
4	chr1:180123317-180123367	SK-N-SH_RA	brain:	n/a
5	chr1:180123317-180123367	BE2_C	brain:	n/a
6	chr1:180123317-180123367	Caco-2	colon:	n/a
7	chr1:180123317-180123367	SAEC	small airway:	n/a
8	chr1:180123317-180123367	NB4	blood:	n/a
9	chr1:180123317-180123367	CMK	blood:	n/a
10	chr1:180123317-180123367	SK-N-SH	brain:	n/a
11	chr1:180123317-180123367	AG10803	skin:	n/a
12	chr1:180123317-180123367	BJ	skin:	n/a
13	chr1:180123317-180123367	AG04449	skin:	fetal
14	chr1:180123317-180123367	LNCaP	prostate:	n/a
15	chr1:180123317-180123367	PFSK-1	brain:	n/a
16	chr1:180123317-180123367	HRCEpiC	kidney:	n/a
17	chr1:180123317-180123367	A549	lung:	n/a
18	chr1:180123317-180123367	GM12891	blood:	n/a
19	chr1:180123317-180123367	GM19239	blood:	n/a
20	chr1:180123317-180123367	K562	blood:	n/a
21	chr1:180123317-180123367	HCPEpiC	choroid plexus:	n/a
22	chr1:180123317-180123367	NT2-D1	testis:	n/a
23	chr1:180123317-180123367	T-47D	breast:	n/a
24	chr1:180123317-180123367	HRE	kidney:	n/a
25	chr1:180123317-180123367	H1-hESC	embryonic stem cell:	embryo
26	chr1:180123317-180123367	HAEpiC	amniotic membrane:	n/a
27	chr1:180123317-180123367	ovcar-3	ovarian:	n/a
28	chr1:180123317-180123367	U87	brain:	n/a
29	chr1:180123317-180123367	SKMC	muscle:	n/a
30	chr1:180123317-180123367	RPTEC	kidney:	n/a
31	chr1:180123317-180123367	ECC-1	luminal epithelium:	n/a
32	chr1:180123317-180123367	MCF10A-Er-Src	breast:	n/a
33	chr1:180123317-180123367	PANC-1	pancreas:	n/a
34	chr1:180123317-180123367	HEEpiC	esophagus:	n/a
35	chr1:180123317-180123367	IMR90	lung:	fetal
36	chr1:180123317-180123367	Jurkat	blood:	n/a
37	chr1:180123317-180123367	HEK293	kidney:	embryo
38	chr1:180123317-180123367	NHDF-neo	bronchial:	n/a
39	chr1:180123317-180123367	HCF	heart:	n/a
40	chr1:180123317-180123367	PrEC	prostate:	n/a
41	chr1:180123317-180123367	HUVEC	blood vessel:	n/a
42	chr1:180123317-180123367	MCF-7	breast:	n/a
43	chr1:180123317-180123367	AG09309	skin:	n/a
44	chr1:180123317-180123367	HIPEpiC	eye:	n/a
45	chr1:180123317-180123367	AoSMC	blood vessel:	n/a
46	chr1:180123317-180123367	HepG2	liver:	n/a
47	chr1:180123317-180123367	GM12878	blood:	n/a
48	chr1:180123317-180123367	HNPCEpiC	eye:	n/a
49	chr1:180123317-180123367	GM12892	blood:	n/a
50	chr1:180123317-180123367	HPAEpiC	pulmonary alveolar:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179844379..179846987-chr1:180122185..180123975,2	MCF-7	breast:
2	chr1:180123151..180123859-chr12:16034873..16035578,2	HCT-116	colon:
3	chr1:179844894..179847778-chr1:180122782..180124340,2	K562	blood:
4	chr1:180060321..180062626-chr1:180121553..180123534,4	MCF-7	breast:
5	chr1:179849468..179853023-chr1:180122560..180126275,4	K562	blood:
6	chr1:180123093..180123878-chr14:81687002..81687977,2	Hela-S3	cervix:
7	chr1:179843719..179847778-chr1:180121939..180127812,8	K562	blood:
8	chr1:180122502..180123389-chr11:62608695..62609423,2	HCT-116	colon:
9	chr1:180122867..180124515-chr12:122237701..122240027,2	MCF-7	breast:
10	chr1:179923898..179926923-chr1:180121889..180124249,4	MCF-7	breast:
11	chr1:180109932..180112525-chr1:180121644..180123894,2	MCF-7	breast:
12	chr1:180123247..180124010-chr10:106097820..106098659,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD6-3	chr1:180123134-180123641	NONHSAT008242

No data

Variant related genes	Relation type
QSOX1	TF binding region
QSOX1	CpG island
ENSG00000169905	Chromatin interaction
ENSG00000165417	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000151491	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000143337	Chromatin interaction
ENSG00000148841	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000023734	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1007590	chr1:180121480-180236452	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv999104	chr1:180121480-180242659	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv3355160	chr1:180122754-180125702	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr1:180122400-180124600	Active TSS	Esophagus	oesophagus
2	chr1:180122400-180125000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:180122800-180123400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:180122800-180123400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
5	chr1:180122800-180123400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:180122800-180123400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:180122800-180123400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:180122800-180123400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:180122800-180123400	Flanking Active TSS	Fetal Lung	lung
10	chr1:180122800-180123400	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr1:180122800-180123400	Flanking Active TSS	Dnd41	blood
12	chr1:180122800-180123400	Flanking Active TSS	K562	blood
13	chr1:180122800-180123600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:180122800-180123600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:180122800-180123600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:180122800-180123600	Flanking Active TSS	Hela-S3	cervix
17	chr1:180122800-180123600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr1:180122800-180124400	Active TSS	Fetal Brain Female	brain
19	chr1:180122800-180124800	Active TSS	Colon Smooth Muscle	Colon
20	chr1:180122800-180124800	Active TSS	Fetal Kidney	kidney
21	chr1:180122800-180125000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:180122800-180125200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:180122800-180125400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:180123000-180123400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:180123000-180123400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:180123000-180123400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:180123000-180123400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:180123000-180123400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:180123000-180123400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:180123000-180123400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr1:180123000-180123400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:180123000-180123400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:180123000-180123400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr1:180123000-180123400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:180123000-180123400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:180123000-180123400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:180123000-180123400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr1:180123000-180123400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:180123000-180123400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:180123000-180123400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:180123000-180123400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:180123000-180123400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr1:180123000-180123400	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr1:180123000-180123400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr1:180123000-180123400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr1:180123000-180123400	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr1:180123000-180123400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:180123000-180123400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:180123000-180123400	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr1:180123000-180123400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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