Variant report

Variant	rs1243370
Chromosome Location	chr14:21674214-21674215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21668920-21675814	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:21671219-21674521	GM19193	blood:	n/a	n/a
3	POLR2A	chr14:21674198-21674555	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr14:21673824-21674516	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr14:21674203-21674832	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:21674125-21674651	GM12892	blood:	n/a	n/a
7	BCLAF1	chr14:21674052-21674559	GM12878	blood:	n/a	n/a
8	JUN	chr14:21674172-21674288	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:21673813-21674560	GM12878	blood:	n/a	n/a
10	TEAD4	chr14:21674192-21674767	K562	blood:	n/a	n/a
11	POLR2A	chr14:21669741-21676080	K562	blood:	n/a	n/a
12	POLR2A	chr14:21667205-21678686	K562	blood:	n/a	n/a
13	POLR2A	chr14:21667196-21677075	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:21667116-21678581	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:21673836-21674653	GM12891	blood:	n/a	n/a
16	POLR2A	chr14:21670116-21677113	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr14:21671523-21675086	GM12891	blood:	n/a	n/a
18	CREB1	chr14:21674137-21675069	GM12878	blood:	n/a	n/a
19	BCLAF1	chr14:21671128-21675456	GM12878	blood:	n/a	chr14:21672778-21672787
20	POLR2A	chr14:21667121-21678175	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr14:21670026-21677035	K562	blood:	n/a	n/a
22	POLR2A	chr14:21673579-21674636	HCT-116	colon:	n/a	n/a
23	BCL3	chr14:21673671-21674743	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:21673945-21674694	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:21673006-21674602	SK-N-MC	brain:	n/a	n/a
26	PML	chr14:21670080-21676307	GM12878	blood:	n/a	chr14:21672779-21672788
27	POLR2A	chr14:21669019-21677239	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:21674137-21674695	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr14:21673558-21675413	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr14:21669901-21674920	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr14:21670241-21675500	GM19099	blood:	n/a	n/a
32	STAT5A	chr14:21674047-21674506	GM12878	blood:	n/a	chr14:21674382-21674390
33	POLR2A	chr14:21673628-21674702	K562	blood:	n/a	n/a
34	POLR2A	chr14:21668952-21677245	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:21674010-21674847	GM12892	blood:	n/a	n/a
36	POLR2A	chr14:21673578-21674873	HL-60	blood:	n/a	n/a
37	POLR2A	chr14:21671427-21675883	K562	blood:	n/a	n/a
38	NFATC1	chr14:21669953-21676328	GM12878	blood:	n/a	n/a
39	MTA3	chr14:21669984-21675362	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:21670155-21676014	K562	blood:	n/a	n/a
41	POLR2A	chr14:21669013-21677198	GM12878	blood:	n/a	n/a
42	TEAD4	chr14:21672608-21674306	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:21667148-21677070	A549	lung:	n/a	n/a
44	POLR2A	chr14:21674212-21674649	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr14:21671360-21675202	GM18526	blood:	n/a	n/a
46	POLR2A	chr14:21671192-21675446	NB4	blood:	n/a	n/a
47	POLR2A	chr14:21670132-21676277	GM18505	blood:	n/a	n/a
48	POLR2A	chr14:21673519-21675429	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr14:21674079-21674700	GM12891	blood:	n/a	n/a
50	POLR2A	chr14:21673750-21674912	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21671465..21674942-chr14:21676988..21681110,7	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00641	TF binding region
ENSG00000092199	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12892305	0.86[CHB][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv974434	chr14:21634973-21678548	Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv974312	chr14:21652582-21678548	Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv1037590	chr14:21659344-21708852	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv541979	chr14:21672540-21735893	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	nsv541980	chr14:21672540-21742729	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21660600-21686200	Weak transcription	Right Atrium	heart
2	chr14:21660800-21675200	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:21660800-21678200	Weak transcription	Right Ventricle	heart
4	chr14:21660800-21679400	Weak transcription	Gastric	stomach
5	chr14:21661000-21674800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:21661000-21674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:21661000-21679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:21664000-21675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:21664000-21675400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:21664800-21677600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:21665400-21677000	Weak transcription	Ovary	ovary
12	chr14:21666000-21675400	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:21667800-21675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:21669000-21674600	Weak transcription	Hela-S3	cervix
15	chr14:21669000-21679400	Weak transcription	Aorta	Aorta
16	chr14:21669000-21685800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:21669400-21679800	Weak transcription	Small Intestine	intestine
18	chr14:21669400-21681600	Strong transcription	Left Ventricle	heart
19	chr14:21669400-21685600	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr14:21669800-21676400	Weak transcription	Brain Angular Gyrus	brain
21	chr14:21670000-21679600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:21670000-21681600	Strong transcription	Fetal Muscle Leg	muscle
23	chr14:21670200-21683600	Strong transcription	Fetal Thymus	thymus
24	chr14:21670200-21684200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:21670200-21684600	Strong transcription	NHLF	lung
26	chr14:21670200-21685000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:21670200-21685400	Strong transcription	HSMM	muscle
28	chr14:21670200-21685400	Strong transcription	NH-A	brain
29	chr14:21670200-21685400	Strong transcription	Osteobl	bone
30	chr14:21670400-21676800	Weak transcription	Esophagus	oesophagus
31	chr14:21670400-21679400	Weak transcription	Fetal Intestine Small	intestine
32	chr14:21670400-21697600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:21670600-21676800	Weak transcription	Pancreas	Pancrea
34	chr14:21670600-21683400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:21670800-21682400	Strong transcription	A549	lung
36	chr14:21670800-21684800	Strong transcription	HSMMtube	muscle
37	chr14:21670800-21685000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:21670800-21687400	Strong transcription	Fetal Brain Female	brain
39	chr14:21670800-21702400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr14:21671000-21676800	Weak transcription	Stomach Mucosa	stomach
41	chr14:21671200-21674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:21671200-21676800	Strong transcription	GM12878-XiMat	blood
43	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:21671400-21675000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:21671400-21675600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:21671400-21681000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr14:21671400-21684600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:21671400-21684800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr14:21671600-21674400	Strong transcription	Brain Germinal Matrix	brain
50	chr14:21671600-21674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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