Variant report

Variant	rs372716921
Chromosome Location	chr1:180123121-180123122
allele	-/TAAAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

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	POLR2A	chr1:180122966-180123901	HL-60	blood:	n/a	n/a
3	WRNIP1	chr1:180123109-180123852	GM12878	blood:	n/a	n/a
4	JUND	chr1:180123048-180124218	K562	blood:	n/a	n/a
5	SIN3A	chr1:180123052-180125035	H1-hESC	embryonic stem cell:	n/a	chr1:180123821-180123834 chr1:180123945-180123954
6	POLR2A	chr1:180122896-180124310	PBDE	blood:	n/a	n/a
7	MAZ	chr1:180123089-180125392	IMR90	lung:	n/a	n/a
8	POU2F2	chr1:180123112-180123888	GM12878	blood:	n/a	n/a
9	TEAD4	chr1:180123104-180123854	K562	blood:	n/a	n/a
10	POLR2A	chr1:180122678-180124264	MCF10A-Er-Src	breast:	n/a	n/a
11	MAX	chr1:180123056-180124751	K562	blood:	n/a	n/a
12	POLR2A	chr1:180122604-180124286	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr1:180122827-180124275	NB4	blood:	n/a	n/a
14	POLR2A	chr1:180122547-180123875	PANC-1	pancreas:	n/a	n/a
15	ZNF143	chr1:180123082-180123850	K562	blood:	n/a	chr1:180123739-180123757
16	POLR2A	chr1:180123026-180124326	HL-60	blood:	n/a	n/a
17	CHD1	chr1:180122641-180127045	IMR90	lung:	n/a	chr1:180124562-180124572
18	POLR2A	chr1:180122937-180124249	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:180122896-180124361	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr1:180122713-180124263	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:180123112-180124679	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:180123032-180124257	K562	blood:	n/a	n/a
23	POLR2A	chr1:180123116-180124483	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr1:180123043-180123881	K562	blood:	n/a	n/a
25	MAX	chr1:180123106-180124905	NB4	blood:	n/a	n/a
26	POLR2A	chr1:180123085-180124418	K562	blood:	n/a	n/a
27	HEY1	chr1:180123108-180123872	K562	blood:	n/a	chr1:180123698-180123713
28	HCFC1	chr1:180123056-180124494	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:180122841-180125159	IMR90	lung:	n/a	n/a
30	POLR2A	chr1:180123103-180124259	GM12878	blood:	n/a	n/a
31	CREB1	chr1:180123045-180124769	K562	blood:	n/a	n/a
32	MYC	chr1:180123039-180124298	K562	blood:	n/a	n/a
33	SIN3AK20	chr1:180123023-180124345	HCT-116	colon:	n/a	n/a
34	POLR2A	chr1:180122580-180124215	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr1:180122719-180124730	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr1:180123030-180124385	K562	blood:	n/a	n/a
37	POLR2A	chr1:180123055-180124246	K562	blood:	n/a	n/a
38	ZMIZ1	chr1:180123079-180124221	K562	blood:	n/a	n/a
39	POLR2A	chr1:180122043-180124190	K562	blood:	n/a	n/a
40	REST	chr1:180123076-180125291	H1-neurons	neurons:	n/a	chr1:180123105-180123113 chr1:180124926-180124934 chr1:180123821-180123834
41	POLR2A	chr1:180123096-180124274	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:180123035-180124280	GM12878	blood:	n/a	n/a
43	CUX1	chr1:180123095-180123623	K562	blood:	n/a	n/a
44	POLR2A	chr1:180123070-180123222	GM12878	blood:	n/a	n/a
45	MAX	chr1:180123028-180124990	K562	blood:	n/a	n/a
46	POLR2A	chr1:180122767-180124259	GM12878	blood:	n/a	n/a
47	MAZ	chr1:180123070-180124320	K562	blood:	n/a	n/a
48	MXI1	chr1:180122822-180125322	SK-N-SH	brain:	n/a	chr1:180123364-180123379 chr1:180123945-180123954 chr1:180124358-180124367
49	MTA3	chr1:180122978-180123871	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:180122884-180124244	SK-N-MC	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
QSOX1	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000143337	Chromatin interaction
ENSG00000169905	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000165417	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180122400-180123200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:180122400-180124600	Active TSS	Esophagus	oesophagus
3	chr1:180122400-180125000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:180122800-180123200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
5	chr1:180122800-180123200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:180122800-180123200	Flanking Active TSS	Rectal Smooth Muscle	rectum
7	chr1:180122800-180123200	Enhancers	Spleen	Spleen
8	chr1:180122800-180123200	Flanking Active TSS	A549	lung
9	chr1:180122800-180123400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:180122800-180123400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr1:180122800-180123400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:180122800-180123400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:180122800-180123400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:180122800-180123400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:180122800-180123400	Flanking Active TSS	Fetal Lung	lung
16	chr1:180122800-180123400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr1:180122800-180123400	Flanking Active TSS	Dnd41	blood
18	chr1:180122800-180123400	Flanking Active TSS	K562	blood
19	chr1:180122800-180123600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:180122800-180123600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr1:180122800-180123600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:180122800-180123600	Flanking Active TSS	Hela-S3	cervix
23	chr1:180122800-180123600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:180122800-180124400	Active TSS	Fetal Brain Female	brain
25	chr1:180122800-180124800	Active TSS	Colon Smooth Muscle	Colon
26	chr1:180122800-180124800	Active TSS	Fetal Kidney	kidney
27	chr1:180122800-180125000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:180122800-180125200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:180122800-180125400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:180123000-180123200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr1:180123000-180123200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:180123000-180123200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:180123000-180123200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:180123000-180123200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:180123000-180123200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr1:180123000-180123200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:180123000-180123200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:180123000-180123200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:180123000-180123200	Active TSS	Colonic Mucosa	Colon
40	chr1:180123000-180123200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:180123000-180123200	Flanking Active TSS	Fetal Heart	heart
42	chr1:180123000-180123200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr1:180123000-180123200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:180123000-180123200	Enhancers	Gastric	stomach
45	chr1:180123000-180123200	Flanking Active TSS	Ovary	ovary
46	chr1:180123000-180123200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:180123000-180123200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
48	chr1:180123000-180123200	Flanking Active TSS	Right Atrium	heart
49	chr1:180123000-180123200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr1:180123000-180123200	Flanking Active TSS	HSMM	muscle

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