Variant report

Variant	rs181892932
Chromosome Location	chr5:14872953-14872954
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:14872540-14873040	HepG2	liver:	n/a	n/a
2	MAZ	chr5:14871738-14873010	K562	blood:	n/a	n/a
3	POLR2A	chr5:14871613-14873074	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:14871952-14873093	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr5:14872858-14872977	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:14871388-14873149	H1-neurons	neurons:	n/a	n/a
7	CREB1	chr5:14872798-14873191	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:14871370-14873359	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:14871501-14873053	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr5:14872789-14873422	MCF10A-Er-Src	breast:	n/a	n/a
11	ELK1	chr5:14872041-14873057	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr5:14872888-14873343	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:14871612-14873123	Gliobla	brain:	n/a	n/a
14	MXI1	chr5:14870995-14873284	IMR90	lung:	n/a	n/a
15	POLR2A	chr5:14871652-14873176	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:14872852-14873008	A549	lung:	n/a	n/a
17	MYC	chr5:14871019-14873110	NB4	blood:	n/a	n/a
18	REST	chr5:14871432-14873159	H1-neurons	neurons:	n/a	chr5:14872218-14872231
19	POLR2A	chr5:14872898-14873035	MCF-7	breast:	n/a	n/a
20	POLR2A	chr5:14871471-14873051	NB4	blood:	n/a	n/a
21	SMARCB1	chr5:14871303-14873122	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr5:14872910-14873045	A549	lung:	n/a	n/a
23	ZKSCAN1	chr5:14872316-14873076	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:14872900-14873059	HepG2	liver:	n/a	n/a
25	POLR2A	chr5:14872113-14873183	HepG2	liver:	n/a	n/a
26	MAX	chr5:14871312-14873135	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr5:14871121-14873136	Hela-S3	cervix:	n/a	chr5:14872382-14872392
28	POLR2A	chr5:14871570-14873197	IMR90	lung:	n/a	n/a
29	POLR2A	chr5:14872678-14873212	U87	brain:	n/a	n/a
30	CTCF	chr5:14870340-14873263	A549	lung:	n/a	chr5:14872424-14872437
31	POLR2A	chr5:14872659-14873212	U87	brain:	n/a	n/a
32	POLR2A	chr5:14871307-14873049	H1-neurons	neurons:	n/a	n/a
33	CEBPB	chr5:14871936-14873092	Hela-S3	cervix:	n/a	n/a
34	HMGN3	chr5:14871435-14873058	K562	blood:	n/a	n/a
35	MAZ	chr5:14871122-14873170	IMR90	lung:	n/a	n/a
36	NRF1	chr5:14872379-14873187	SK-N-SH	brain:	n/a	chr5:14872452-14872461 chr5:14872405-14872414
37	TCF7L2	chr5:14872583-14873136	Hela-S3	cervix:	n/a	n/a
38	RFX5	chr5:14872475-14873151	Hela-S3	cervix:	n/a	n/a
39	MAZ	chr5:14871398-14873063	Hela-S3	cervix:	n/a	n/a
40	SIN3A	chr5:14872686-14873056	H1-hESC	embryonic stem cell:	n/a	chr5:14872873-14872887
41	POLR2A	chr5:14872602-14873162	U87	brain:	n/a	n/a
42	CHD1	chr5:14871627-14873214	IMR90	lung:	n/a	chr5:14872382-14872392
43	POLR2A	chr5:14871510-14873189	ProgFib	skin:	n/a	n/a
44	MYC	chr5:14871060-14873114	Hela-S3	cervix:	n/a	n/a
45	TFAP2A	chr5:14871344-14873013	Hela-S3	cervix:	n/a	chr5:14871592-14871604 chr5:14872295-14872307 chr5:14872448-14872463 chr5:14872321-14872333
46	MXI1	chr5:14871804-14873124	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr5:14871703-14873074	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr5:14869184-14873385	SK-N-SH	brain:	n/a	chr5:14869848-14869857
49	BRCA1	chr5:14872602-14873086	Hela-S3	cervix:	n/a	n/a
50	MAX	chr5:14871697-14873072	NB4	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14872934-14872984	SK-N-MC	brain:	n/a
2	chr5:14872934-14872984	U87	brain:	n/a
3	chr5:14872934-14872984	HNPCEpiC	eye:	n/a
4	chr5:14872934-14872984	MCF10A-Er-Src	breast:	n/a
5	chr5:14872934-14872984	HRPEpiC	eye:	n/a
6	chr5:14872934-14872984	HCT-116	colon:	n/a
7	chr5:14872934-14872984	GM06990	blood:	n/a
8	chr5:14872934-14872984	AG10803	skin:	n/a
9	chr5:14872934-14872984	Caco-2	colon:	n/a
10	chr5:14872934-14872984	RPTEC	kidney:	n/a
11	chr5:14872934-14872984	T-47D	breast:	n/a
12	chr5:14872934-14872984	GM12892	blood:	n/a
13	chr5:14872934-14872984	MCF-7	breast:	n/a
14	chr5:14872934-14872984	Hepatocyte	liver:	n/a
15	chr5:14872934-14872984	HCPEpiC	choroid plexus:	n/a
16	chr5:14872934-14872984	A549	lung:	n/a
17	chr5:14872934-14872984	NHDF-neo	bronchial:	n/a
18	chr5:14872934-14872984	HEK293	kidney:	embryo
19	chr5:14872934-14872984	CMK	blood:	n/a
20	chr5:14872934-14872984	GM12878	blood:	n/a
21	chr5:14872934-14872984	SK-N-SH_RA	brain:	n/a
22	chr5:14872934-14872984	NH-A	brain:	n/a
23	chr5:14872934-14872984	HL-60	blood:	n/a
24	chr5:14872934-14872984	SKMC	muscle:	n/a
25	chr5:14872934-14872984	NHBE	bronchial:	n/a
26	chr5:14872934-14872984	AG09309	skin:	n/a
27	chr5:14872934-14872984	ECC-1	luminal epithelium:	n/a
28	chr5:14872934-14872984	ProgFib	skin:	n/a
29	chr5:14872934-14872984	HMEC	breast:	n/a
30	chr5:14872934-14872984	GM19239	blood:	n/a
31	chr5:14872934-14872984	PANC-1	pancreas:	n/a
32	chr5:14872934-14872984	HAEpiC	amniotic membrane:	n/a
33	chr5:14872934-14872984	IMR90	lung:	fetal
34	chr5:14872934-14872984	HCF	heart:	n/a
35	chr5:14872934-14872984	BE2_C	brain:	n/a
36	chr5:14872934-14872984	HRE	kidney:	n/a
37	chr5:14872934-14872984	PrEC	prostate:	n/a
38	chr5:14872934-14872984	HIPEpiC	eye:	n/a
39	chr5:14872934-14872984	K562	blood:	n/a
40	chr5:14872934-14872984	SAEC	small airway:	n/a
41	chr5:14872934-14872984	GM12891	blood:	n/a
42	chr5:14872934-14872984	HCM	heart:	n/a
43	chr5:14872934-14872984	HRCEpiC	kidney:	n/a
44	chr5:14872934-14872984	HepG2	liver:	n/a
45	chr5:14872934-14872984	HPAEpiC	pulmonary alveolar:	n/a
46	chr5:14872934-14872984	AG04449	skin:	fetal
47	chr5:14872934-14872984	SK-N-SH	brain:	n/a
48	chr5:14872934-14872984	NT2-D1	testis:	n/a
49	chr5:14872934-14872984	LNCaP	prostate:	n/a
50	chr5:14872934-14872984	BJ	skin:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
2	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
3	chr5:14871623..14873903-chr5:14874758..14876587,2	K562	blood:
4	chr5:14872363..14873864-chr6:26021710..26023410,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKH	TF binding region
ANKH	CpG island
ENSG00000250662	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000249928	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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv969946	chr5:14867971-14880715	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3439895	chr5:14870477-14873325	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3409961	chr5:14870827-14873250	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3356858	chr5:14871502-14873150	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv597258	chr5:14871848-14875868	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv597259	chr5:14871900-14875868	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1833901	chr5:14871952-14884822	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr5:14869400-14873000	Active TSS	Aorta	Aorta
2	chr5:14869600-14873000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:14869600-14873200	Active TSS	Brain Cingulate Gyrus	brain
4	chr5:14869600-14873200	Active TSS	Fetal Intestine Small	intestine
5	chr5:14869800-14873000	Active TSS	Left Ventricle	heart
6	chr5:14869800-14873200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr5:14869800-14873200	Active TSS	Right Ventricle	heart
8	chr5:14870000-14873000	Active TSS	Colonic Mucosa	Colon
9	chr5:14870000-14873000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:14870000-14873000	Active TSS	Esophagus	oesophagus
11	chr5:14870000-14873000	Active TSS	Fetal Intestine Large	intestine
12	chr5:14870200-14873000	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr5:14870200-14873000	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr5:14870200-14873000	Active TSS	Gastric	stomach
15	chr5:14870200-14873000	Active TSS	Psoas Muscle	Psoas
16	chr5:14870200-14873000	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr5:14870200-14873000	Active TSS	HSMMtube	muscle
18	chr5:14870200-14873000	Active TSS	Osteobl	bone
19	chr5:14870200-14873200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:14870200-14873200	Active TSS	Brain Angular Gyrus	brain
21	chr5:14870200-14873200	Active TSS	Brain Anterior Caudate	brain
22	chr5:14870200-14873200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:14870200-14873400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr5:14870400-14873000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:14870400-14873200	Active TSS	Colon Smooth Muscle	Colon
26	chr5:14870600-14873000	Active TSS	NHDF-Ad	bronchial
27	chr5:14870600-14873200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:14870600-14873200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:14870800-14873000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:14870800-14873000	Active TSS	Duodenum Mucosa	Duodenum
31	chr5:14870800-14873000	Active TSS	Lung	lung
32	chr5:14870800-14873000	Active TSS	Ovary	ovary
33	chr5:14870800-14873000	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr5:14870800-14873200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr5:14870800-14873200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:14870800-14873200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr5:14870800-14873200	Active TSS	Small Intestine	intestine
38	chr5:14870800-14873200	Active TSS	GM12878-XiMat	blood
39	chr5:14870800-14873200	Active TSS	HepG2	liver
40	chr5:14870800-14873400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr5:14870800-14873400	Active TSS	Fetal Brain Female	brain
42	chr5:14870800-14873400	Active TSS	Thymus	Thymus
43	chr5:14871000-14873000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:14871200-14873000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:14871200-14873000	Active TSS	NHEK	skin
46	chr5:14871200-14873200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr5:14871200-14873200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr5:14871200-14873200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr5:14871200-14873200	Active TSS	HSMM	muscle
50	chr5:14871400-14873000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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