Variant report

Variant	rs2295978
Chromosome Location	chr14:24656251-24656252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24655731-24656471	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:24655829-24656463	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:24655903-24656519	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:24656198-24656275	K562	blood:	n/a	n/a
5	POLR2A	chr14:24656147-24656261	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr14:24656149-24656401	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:24655805-24656528	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24655487..24659760-chr14:24674840..24680491,9	MCF-7	breast:
2	chr14:24656006..24657635-chr14:24902151..24905005,2	MCF-7	breast:
3	chr14:24655787..24658216-chr14:24740858..24744211,3	K562	blood:
4	chr14:24655312..24660662-chr14:24700172..24703885,7	MCF-7	breast:
5	chr14:24655775..24658265-chr14:24801236..24803229,2	MCF-7	breast:
6	chr14:24654479..24657858-chr14:24783212..24786979,3	K562	blood:
7	chr14:24655837..24658282-chr14:24904503..24906148,2	K562	blood:
8	chr14:24653860..24661964-chr14:24680820..24687057,41	MCF-7	breast:
9	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
10	chr14:24656097..24659538-chr14:24709665..24713530,7	MCF-7	breast:

No data

Variant related genes	Relation type
IPO4	TF binding region
ENSG00000213903	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000139908	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000213920	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10467733	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11550452	0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12432304	1.00[CEU][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs2025258	0.91[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs2295977	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs28495052	0.94[EUR][1000 genomes]
rs36113166	0.82[EUR][1000 genomes]
rs4761	0.91[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap]
rs59110805	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146310	0.87[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154911	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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	chr14:24641600-24656600	Strong transcription	Placenta	Placenta
2	chr14:24641600-24656800	Weak transcription	Right Atrium	heart
3	chr14:24641800-24656400	Strong transcription	Adipose Nuclei	Adipose
4	chr14:24642400-24656400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:24643000-24656400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:24643400-24656400	Strong transcription	Primary T cells from cord blood	blood
7	chr14:24643400-24656400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:24643400-24656800	Strong transcription	Brain Germinal Matrix	brain
9	chr14:24643800-24656600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:24643800-24656600	Weak transcription	Fetal Brain Male	brain
11	chr14:24644000-24656600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:24644000-24656800	Strong transcription	Thymus	Thymus
13	chr14:24644200-24656800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:24644400-24656400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:24644400-24656800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:24644800-24656600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:24645400-24656400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:24645400-24656600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:24645600-24656600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr14:24645600-24656600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:24645600-24657000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:24645600-24657000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:24645800-24656400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr14:24645800-24656400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr14:24645800-24656600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:24645800-24656600	Strong transcription	Colonic Mucosa	Colon
27	chr14:24645800-24656800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:24646000-24656400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:24646000-24656600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr14:24646000-24656600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:24646000-24656600	Strong transcription	Ovary	ovary
32	chr14:24646200-24656600	Strong transcription	NHEK	skin
33	chr14:24647000-24656400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:24647200-24656800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr14:24647400-24657000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:24648000-24656600	Strong transcription	Fetal Lung	lung
37	chr14:24648000-24656600	Strong transcription	A549	lung
38	chr14:24649000-24656400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:24649000-24656400	Strong transcription	Fetal Muscle Leg	muscle
40	chr14:24649200-24656400	Strong transcription	Right Ventricle	heart
41	chr14:24649600-24656400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:24649600-24656800	Weak transcription	Psoas Muscle	Psoas
43	chr14:24649800-24656600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:24649800-24656600	Strong transcription	Osteobl	bone
45	chr14:24649800-24656800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:24650000-24656400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:24650000-24656600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:24650000-24656600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr14:24650000-24656600	Strong transcription	Brain Angular Gyrus	brain
50	chr14:24650000-24656600	Strong transcription	Brain Anterior Caudate	brain

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