Variant report

Variant	rs534808314
Chromosome Location	chr1:161041880-161041881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr1:161041728-161041928	K562	blood:	n/a	n/a
2	CTCF	chr1:161041679-161041916	GM10248	blood:	n/a	n/a
3	RUNX3	chr1:161041601-161041968	GM12878	blood:	n/a	n/a
4	CTCF	chr1:161041428-161042236	A549	lung:	n/a	n/a
5	CTCF	chr1:161041667-161041966	GM19238	blood:	n/a	n/a
6	CTCF	chr1:161041673-161041981	HepG2	liver:	n/a	n/a
7	MAX	chr1:161041728-161041940	K562	blood:	n/a	n/a
8	CTCF	chr1:161041740-161041890	GM12874	blood:	n/a	n/a
9	RCOR1	chr1:161041767-161041946	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr1:161041513-161042037	A549	lung:	n/a	n/a
11	CTCF	chr1:161041682-161041912	HepG2	liver:	n/a	n/a
12	CTCF	chr1:161041646-161042048	A549	lung:	n/a	n/a
13	ZNF384	chr1:161041775-161041958	K562	blood:	n/a	n/a
14	CTCF	chr1:161041664-161041913	Pancreas_OC	pancreas:	n/a	n/a
15	RAD21	chr1:161041499-161042217	HCT-116	colon:	n/a	n/a
16	YY1	chr1:161041581-161041974	GM12878	blood:	n/a	n/a
17	CCNT2	chr1:161041853-161042239	K562	blood:	n/a	n/a
18	SMC3	chr1:161041622-161041989	K562	blood:	n/a	n/a
19	CTCF	chr1:161041760-161041910	GM12868	blood:	n/a	n/a
20	RAD21	chr1:161041515-161042089	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr1:161041618-161042032	HepG2	liver:	n/a	n/a
22	RAD21	chr1:161041645-161042015	GM12878	blood:	n/a	n/a
23	RAD21	chr1:161041641-161042016	HepG2	liver:	n/a	n/a
24	CTCF	chr1:161041740-161041890	GM12865	blood:	n/a	n/a
25	CTCF	chr1:161041800-161041950	NHEK	skin:	n/a	n/a
26	FOXA2	chr1:161041560-161042078	A549	lung:	n/a	n/a
27	RAD21	chr1:161041661-161041931	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:161041760-161041910	HRE	kidney:	n/a	n/a
29	CTCF	chr1:161041611-161041938	HepG2	liver:	n/a	n/a
30	RCOR1	chr1:161041706-161041984	K562	blood:	n/a	n/a
31	CTCF	chr1:161041707-161041922	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr1:161041625-161042282	HCT-116	colon:	n/a	n/a
33	RAD21	chr1:161041645-161042040	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr1:161041699-161041919	ProgFib	skin:	n/a	n/a
35	CTCF	chr1:161041740-161041890	HA-sp	spinal cord:	n/a	n/a
36	GTF2F1	chr1:161041782-161041894	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:161041671-161041887	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr1:161041717-161041920	Kidney_OC	kidney:	n/a	n/a
39	RAD21	chr1:161041679-161042037	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:161041772-161042045	HepG2	liver:	n/a	n/a
41	CTCF	chr1:161041740-161041890	GM12864	blood:	n/a	n/a
42	SMC3	chr1:161041608-161041980	GM12878	blood:	n/a	n/a
43	RAD21	chr1:161041557-161041999	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr1:161041697-161041913	NHEK	skin:	n/a	n/a
45	CTCF	chr1:161041760-161041910	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr1:161041602-161042021	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:161041633-161041936	A549	lung:	n/a	n/a
48	YY1	chr1:161041685-161041968	GM12878	blood:	n/a	n/a
49	RAD21	chr1:161041623-161042017	A549	lung:	n/a	n/a
50	MAZ	chr1:161041662-161041976	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161013435..161019346-chr1:161039308..161043996,7	MCF-7	breast:
2	chr1:161041327..161042169-chr1:161066813..161068080,6	MCF-7	breast:
3	chr1:160963404..160964072-chr1:161041337..161041980,2	MCF-7	breast:
4	chr1:161040956..161045180-chr1:161134527..161136918,3	MCF-7	breast:
5	chr1:161041307..161042464-chr1:161067079..161068224,19	MCF-7	breast:
6	chr1:161041431..161042257-chr1:161128491..161129236,2	K562	blood:
7	chr1:161035244..161038070-chr1:161039157..161043697,5	MCF-7	breast:
8	chr1:161041322..161042651-chr1:161108963..161110253,9	K562	blood:

No data

Variant related genes	Relation type
ARHGAP30	TF binding region
ENSG00000224985	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000268154	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv947135	chr1:161041002-161050287	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161030000-161046200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:161038800-161043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:161039000-161042000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:161039000-161043400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:161039200-161042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:161039600-161042000	Weak transcription	Fetal Stomach	stomach
7	chr1:161039600-161042000	Weak transcription	Spleen	Spleen
8	chr1:161039600-161049000	Weak transcription	Lung	lung
9	chr1:161039600-161066800	Weak transcription	Right Atrium	heart
10	chr1:161039800-161042000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:161039800-161042000	Enhancers	Fetal Thymus	thymus
12	chr1:161039800-161042000	Weak transcription	Gastric	stomach
13	chr1:161039800-161049000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:161039800-161052600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:161039800-161053000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:161040000-161042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:161040000-161042000	Strong transcription	Esophagus	oesophagus
18	chr1:161040000-161042200	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:161040000-161042400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:161040000-161044400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:161040200-161042000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:161040200-161042000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:161040200-161042000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr1:161040200-161042000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:161040200-161042000	Enhancers	GM12878-XiMat	blood
26	chr1:161040200-161042200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:161040200-161042200	Enhancers	Primary B cells from cord blood	blood
28	chr1:161040200-161042200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr1:161040200-161042200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:161040200-161042400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:161040200-161042400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:161040200-161042400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:161040200-161042400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:161040200-161042600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:161040200-161042600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:161040200-161045000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr1:161040200-161052600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:161040200-161052800	Weak transcription	Colonic Mucosa	Colon
39	chr1:161040400-161042200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr1:161040600-161042200	Enhancers	Primary T cells from cord blood	blood
41	chr1:161040800-161042200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:161040800-161042200	Weak transcription	Stomach Mucosa	stomach
43	chr1:161040800-161042400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:161040800-161046800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:161041000-161043200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:161041200-161043000	Weak transcription	HMEC	breast
47	chr1:161041200-161043600	Genic enhancers	Placenta	Placenta
48	chr1:161041400-161043200	Weak transcription	NHEK	skin
49	chr1:161041800-161042000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:161041800-161042000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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