Variant report

Variant	rs4981495
Chromosome Location	chr14:24644109-24644110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24643679-24644323	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:24643556-24655637	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:24643090-24645057	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:24643692-24644149	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:24643703-24644266	GM12891	blood:	n/a	n/a
6	POLR2A	chr14:24643692-24644134	GM12891	blood:	n/a	n/a
7	POLR2A	chr14:24643880-24644111	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:24643930-24644119	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:24643583-24645410	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:24643671-24644132	GM12891	blood:	n/a	n/a
11	POLR2A	chr14:24643092-24645449	GM12892	blood:	n/a	n/a
12	POLR2A	chr14:24643658-24645109	GM12892	blood:	n/a	n/a
13	POLR2A	chr14:24643055-24653064	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24625193..24627577-chr14:24641996..24645426,3	K562	blood:
2	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
3	chr14:24642248..24644284-chr14:24723832..24725589,2	MCF-7	breast:

Variant related genes	Relation type
REC8	TF binding region
ENSG00000092098	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000092295	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1061838	0.89[JPT][hapmap]
rs11547058	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1543518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17101730	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17256713	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2236350	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3742502	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs45484197	0.93[ASN][1000 genomes]
rs4981496	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982867	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7145633	0.95[JPT][hapmap]
rs72694304	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs743272	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8009671	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv522667	chr14:24641526-24654590	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1804053	chr14:24642785-24660721	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24631600-24653800	Weak transcription	K562	blood
2	chr14:24635200-24647400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:24635400-24647800	Weak transcription	HMEC	breast
4	chr14:24635600-24647000	Weak transcription	Dnd41	blood
5	chr14:24636200-24646000	Weak transcription	Stomach Mucosa	stomach
6	chr14:24636600-24646000	Weak transcription	Small Intestine	intestine
7	chr14:24636600-24647400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:24637000-24648000	Weak transcription	HSMM	muscle
9	chr14:24637000-24648200	Weak transcription	HSMMtube	muscle
10	chr14:24637200-24644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:24637200-24645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:24637200-24645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:24637200-24646000	Weak transcription	HepG2	liver
14	chr14:24637200-24648000	Weak transcription	Aorta	Aorta
15	chr14:24638200-24648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:24638200-24648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:24639200-24645800	Weak transcription	Osteobl	bone
18	chr14:24641200-24645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:24641200-24647800	Strong transcription	Liver	Liver
20	chr14:24641400-24647600	Weak transcription	Psoas Muscle	Psoas
21	chr14:24641400-24648200	Weak transcription	Left Ventricle	heart
22	chr14:24641400-24656000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:24641600-24644600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:24641600-24646000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:24641600-24646000	Weak transcription	Ovary	ovary
26	chr14:24641600-24646200	Weak transcription	Esophagus	oesophagus
27	chr14:24641600-24648400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:24641600-24648600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:24641600-24656600	Strong transcription	Placenta	Placenta
30	chr14:24641600-24656800	Weak transcription	Right Atrium	heart
31	chr14:24641800-24644600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:24641800-24645800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:24641800-24646000	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:24641800-24646200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:24641800-24647800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:24641800-24648000	Weak transcription	NHDF-Ad	bronchial
37	chr14:24641800-24649600	Weak transcription	HUVEC	blood vessel
38	chr14:24641800-24653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:24641800-24656400	Strong transcription	Adipose Nuclei	Adipose
40	chr14:24642000-24646000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:24642000-24646000	Weak transcription	Brain Substantia Nigra	brain
42	chr14:24642000-24647000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:24642000-24648000	Weak transcription	Fetal Lung	lung
44	chr14:24642000-24648800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:24642000-24656200	Strong transcription	Lung	lung
46	chr14:24642200-24644400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:24642200-24645600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:24642200-24645800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:24642200-24645800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:24642200-24646000	Weak transcription	Right Ventricle	heart

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