Variant report

Variant	rs183220356
Chromosome Location	chr14:65016618-65016619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:65016435-65016712	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr14:65015787-65016676	Hela-S3	cervix:	n/a	n/a
3	MAX	chr14:65016507-65016901	A549	lung:	n/a	n/a
4	E2F6	chr14:65016523-65016748	K562	blood:	n/a	n/a
5	MAX	chr14:65016460-65016902	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:65016574-65016871	MCF-7	breast:	n/a	n/a
7	MAX	chr14:65016522-65016824	K562	blood:	n/a	n/a
8	POLR2A	chr14:65016326-65016680	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr14:65016419-65016767	Hela-S3	cervix:	n/a	n/a
10	HA-E2F1	chr14:65016447-65016870	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:65016456-65016883	H1-hESC	embryonic stem cell:	n/a	n/a
12	TFAP2A	chr14:65016306-65016943	Hela-S3	cervix:	n/a	chr14:65016643-65016651 chr14:65016896-65016904 chr14:65016643-65016651 chr14:65016643-65016651 chr14:65016896-65016904 chr14:65016896-65016904
13	MAX	chr14:65016468-65017093	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAFK	chr14:65016509-65016826	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr14:65015748-65016753	Hela-S3	cervix:	n/a	chr14:65015925-65015936
16	TAF1	chr14:65016435-65016857	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr14:65016547-65016833	NB4	blood:	n/a	n/a
18	YY1	chr14:65016465-65016824	H1-hESC	embryonic stem cell:	n/a	chr14:65016596-65016610
19	RFX5	chr14:65016345-65016755	Hela-S3	cervix:	n/a	n/a
20	MAX	chr14:65016382-65016914	A549	lung:	n/a	n/a
21	POLR2A	chr14:65016394-65016733	Hela-S3	cervix:	n/a	n/a
22	RAD21	chr14:65016472-65016752	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF7L2	chr14:65016474-65016684	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr14:65016576-65016876	H1-hESC	embryonic stem cell:	n/a	n/a
25	UBTF	chr14:65016547-65016667	K562	blood:	n/a	n/a
26	CHD2	chr14:65016418-65016760	Hela-S3	cervix:	n/a	chr14:65016637-65016647 chr14:65016625-65016635
27	MYC	chr14:65016602-65016887	MCF-7	breast:	n/a	n/a
28	TAF7	chr14:65016443-65016794	H1-hESC	embryonic stem cell:	n/a	n/a
29	SMC3	chr14:65016222-65016740	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr14:65016516-65016783	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr14:65016476-65016638	Hela-S3	cervix:	n/a	n/a
32	TFAP2C	chr14:65016191-65016972	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr14:65016277-65016871	A549	lung:	n/a	n/a
34	POLR2A	chr14:65016253-65016917	Hela-S3	cervix:	n/a	n/a
35	E2F1	chr14:65016451-65016831	Hela-S3	cervix:	n/a	n/a
36	UBTF	chr14:65016464-65016720	K562	blood:	n/a	n/a
37	HA-E2F1	chr14:65016336-65016984	MCF-7	breast:	n/a	n/a
38	ELK4	chr14:65016252-65016764	Hela-S3	cervix:	n/a	n/a
39	E2F6	chr14:65016431-65016947	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr14:65016344-65016854	Hela-S3	cervix:	n/a	n/a
41	MYC	chr14:65016563-65016655	Hela-S3	cervix:	n/a	n/a
42	RCOR1	chr14:65016450-65016650	Hela-S3	cervix:	n/a	n/a
43	E2F6	chr14:65016482-65017304	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr14:65016400-65017057	MCF-7	breast:	n/a	n/a
45	ELK1	chr14:65016551-65016763	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:65016441-65016680	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65016595-65016645	Hepatocyte	liver:	n/a
2	chr14:65016591-65016641	NHBE	bronchial:	n/a
3	chr14:65016591-65016641	U87	brain:	n/a
4	chr14:65016591-65016641	LNCaP	prostate:	n/a
5	chr14:65016595-65016645	SK-N-SH_RA	brain:	n/a
6	chr14:65016591-65016641	GM12892	blood:	n/a
7	chr14:65016602-65016652	HCPEpiC	choroid plexus:	n/a
8	chr14:65016591-65016641	Caco-2	colon:	n/a
9	chr14:65016602-65016652	K562	blood:	n/a
10	chr14:65016595-65016645	GM12878	blood:	n/a
11	chr14:65016602-65016652	RPTEC	kidney:	n/a
12	chr14:65016591-65016641	PFSK-1	brain:	n/a
13	chr14:65016591-65016641	GM19239	blood:	n/a
14	chr14:65016602-65016652	GM12878	blood:	n/a
15	chr14:65016595-65016645	K562	blood:	n/a
16	chr14:65016591-65016641	AG10803	skin:	n/a
17	chr14:65016595-65016645	AG04450	lung:	fetal
18	chr14:65016595-65016645	MCF10A-Er-Src	breast:	n/a
19	chr14:65016591-65016641	HUVEC	blood vessel:	n/a
20	chr14:65016591-65016641	PrEC	prostate:	n/a
21	chr14:65016602-65016652	HEEpiC	esophagus:	n/a
22	chr14:65016602-65016652	SK-N-SH	brain:	n/a
23	chr14:65016591-65016641	A549	lung:	n/a
24	chr14:65016602-65016652	HCM	heart:	n/a
25	chr14:65016595-65016645	A549	lung:	n/a
26	chr14:65016591-65016641	HNPCEpiC	eye:	n/a
27	chr14:65016591-65016641	ProgFib	skin:	n/a
28	chr14:65016591-65016641	HAEpiC	amniotic membrane:	n/a
29	chr14:65016602-65016652	HPAEpiC	pulmonary alveolar:	n/a
30	chr14:65016602-65016652	AG04449	skin:	fetal
31	chr14:65016591-65016641	AoSMC	blood vessel:	n/a
32	chr14:65016595-65016645	ECC-1	luminal epithelium:	n/a
33	chr14:65016595-65016645	HRPEpiC	eye:	n/a
34	chr14:65016595-65016645	PrEC	prostate:	n/a
35	chr14:65016595-65016645	HEK293	kidney:	embryo
36	chr14:65016591-65016641	MCF10A-Er-Src	breast:	n/a
37	chr14:65016602-65016652	NHDF-neo	bronchial:	n/a
38	chr14:65016591-65016641	GM06990	blood:	n/a
39	chr14:65016602-65016652	HCF	heart:	n/a
40	chr14:65016602-65016652	IMR90	lung:	fetal
41	chr14:65016595-65016645	H1-hESC	embryonic stem cell:	embryo
42	chr14:65016595-65016645	HCT-116	colon:	n/a
43	chr14:65016602-65016652	Hepatocyte	liver:	n/a
44	chr14:65016602-65016652	Caco-2	colon:	n/a
45	chr14:65016595-65016645	PANC-1	pancreas:	n/a
46	chr14:65016602-65016652	AG09319	gingival:	n/a
47	chr14:65016595-65016645	GM12892	blood:	n/a
48	chr14:65016591-65016641	AG09319	gingival:	n/a
49	chr14:65016595-65016645	HCM	heart:	n/a
50	chr14:65016591-65016641	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
2	chr14:65006961..65009286-chr14:65016299..65018796,2	K562	blood:
3	chr14:64971147..64972847-chr14:65015662..65018406,2	MCF-7	breast:
4	chr14:65015799..65018122-chr20:55818007..55820214,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1R36	TF binding region
PPP1R36	CpG island
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000126803	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564907	chr14:65011509-65018663	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv12236	chr14:65014784-65020415	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv442343	chr14:65015653-65019529	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv564908	chr14:65015655-65017474	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv564909	chr14:65015655-65020267	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65015800-65017200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:65016000-65017000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr14:65016000-65017200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr14:65016000-65017200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr14:65016000-65017200	Bivalent Enhancer	Fetal Lung	lung
6	chr14:65016200-65016800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:65016200-65016800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:65016200-65016800	Flanking Active TSS	Brain Substantia Nigra	brain
9	chr14:65016200-65017000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:65016200-65017000	Enhancers	HMEC	breast
11	chr14:65016200-65017200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
12	chr14:65016200-65017200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr14:65016200-65017200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:65016200-65017200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:65016200-65017200	Flanking Active TSS	Hela-S3	cervix
16	chr14:65016200-65017400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:65016200-65017400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr14:65016200-65017400	Bivalent Enhancer	Liver	Liver
19	chr14:65016200-65017400	Bivalent Enhancer	Fetal Thymus	thymus
20	chr14:65016200-65017400	Enhancers	Spleen	Spleen
21	chr14:65016200-65017400	Flanking Active TSS	NHEK	skin
22	chr14:65016200-65017600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr14:65016400-65016800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:65016400-65016800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:65016400-65016800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
26	chr14:65016400-65016800	Flanking Active TSS	Pancreas	Pancrea
27	chr14:65016400-65016800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr14:65016400-65016800	Flanking Bivalent TSS/Enh	Thymus	Thymus
29	chr14:65016400-65016800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
30	chr14:65016400-65017000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:65016400-65017000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:65016400-65017000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:65016400-65017000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:65016400-65017000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr14:65016400-65017000	Active TSS	Ovary	ovary
36	chr14:65016400-65017000	Flanking Active TSS	Psoas Muscle	Psoas
37	chr14:65016400-65017000	Active TSS	Right Atrium	heart
38	chr14:65016400-65017000	Flanking Active TSS	HUVEC	blood vessel
39	chr14:65016400-65017000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr14:65016400-65017000	Flanking Bivalent TSS/Enh	NH-A	brain
41	chr14:65016400-65017000	Active TSS	NHDF-Ad	bronchial
42	chr14:65016400-65017000	Active TSS	NHLF	lung
43	chr14:65016400-65017000	Bivalent/Poised TSS	Osteobl	bone
44	chr14:65016400-65017200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr14:65016400-65017200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:65016400-65017200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr14:65016400-65017200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:65016400-65017200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr14:65016400-65017200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:65016400-65017200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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