Variant report

Variant	rs1957415
Chromosome Location	chr14:21683984-21683985
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21683528-21684488	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:21681110-21686824	K562	blood:	n/a	n/a
3	POLR2A	chr14:21683928-21683991	A549	lung:	n/a	n/a
4	POLR2A	chr14:21683591-21684939	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr14:21683925-21684032	K562	blood:	n/a	n/a
6	POLR2A	chr14:21683743-21684196	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:21681562-21688502	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:21682516-21685803	GM12891	blood:	n/a	n/a
9	POLR2A	chr14:21683899-21684041	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr14:21683940-21684140	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:21683756-21686835	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:21683942..21686435-chr14:21849185..21850784,2	MCF-7	breast:
2	chr14:21679834..21681471-chr14:21683651..21685737,2	K562	blood:
3	chr14:21682920..21686919-chr14:21693629..21695651,3	MCF-7	breast:
4	chr14:21682890..21684914-chr14:21686115..21687924,2	K562	blood:
5	chr14:21680608..21683274-chr14:21683890..21685747,2	MCF-7	breast:
6	chr14:21679501..21682581-chr14:21683492..21686432,4	K562	blood:
7	chr14:21678068..21679716-chr14:21682875..21685617,2	K562	blood:
8	chr14:21682936..21686679-chr14:21688141..21690652,4	K562	blood:

No data

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

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10133539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142669	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142891	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10149383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11848128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11848510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849527	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092556	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102889	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510166	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016287	1.00[AMR][1000 genomes]
rs9322956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
15	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
16	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
17	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
18	nsv541981	chr14:21676221-21727801	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
19	nsv541982	chr14:21676221-21735893	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv541983	chr14:21676221-21742729	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
21	nsv974314	chr14:21679868-21701353	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 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	chr14:21669000-21685800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:21669400-21685600	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr14:21670200-21684200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:21670200-21684600	Strong transcription	NHLF	lung
6	chr14:21670200-21685000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:21670200-21685400	Strong transcription	HSMM	muscle
8	chr14:21670200-21685400	Strong transcription	NH-A	brain
9	chr14:21670200-21685400	Strong transcription	Osteobl	bone
10	chr14:21670400-21697600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:21670800-21684800	Strong transcription	HSMMtube	muscle
12	chr14:21670800-21685000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:21670800-21687400	Strong transcription	Fetal Brain Female	brain
14	chr14:21670800-21702400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:21671400-21684600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:21671400-21684800	Strong transcription	Stomach Smooth Muscle	stomach
18	chr14:21671600-21686000	Strong transcription	HUVEC	blood vessel
19	chr14:21671600-21688200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:21672200-21684200	Strong transcription	HMEC	breast
21	chr14:21672200-21696600	Strong transcription	Primary B cells from cord blood	blood
22	chr14:21672400-21684800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:21672400-21696000	Strong transcription	Adipose Nuclei	Adipose
24	chr14:21672400-21709000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:21672600-21685400	Strong transcription	NHDF-Ad	bronchial
26	chr14:21672600-21703000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr14:21672800-21684400	Strong transcription	Placenta	Placenta
28	chr14:21672800-21685800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:21672800-21699400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr14:21672800-21699400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:21672800-21709000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:21672800-21725200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:21673000-21687600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:21673000-21702600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:21673000-21702800	Strong transcription	Fetal Intestine Large	intestine
36	chr14:21673200-21709200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:21673400-21684800	Strong transcription	Colonic Mucosa	Colon
38	chr14:21673600-21706000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr14:21674000-21696200	Weak transcription	Fetal Brain Male	brain
40	chr14:21674200-21695400	Strong transcription	Fetal Kidney	kidney
41	chr14:21674200-21698600	Strong transcription	Dnd41	blood
42	chr14:21674400-21684400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:21674600-21687600	Strong transcription	Hela-S3	cervix
44	chr14:21674600-21698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:21674800-21685000	Strong transcription	Fetal Lung	lung
46	chr14:21675000-21684800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:21675600-21684800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:21675800-21685000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:21676400-21687400	Weak transcription	Fetal Heart	heart
50	chr14:21676600-21684800	Strong transcription	H9 Cell Line	embryonic stem cell

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