Variant report

Variant	rs2295306
Chromosome Location	chr14:24765684-24765685
allele	C/T
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:16)
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	MBD4	chr14:24765655-24767231	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24765616-24765878	K562	blood:	n/a	n/a
3	MTA3	chr14:24765611-24766892	GM12878	blood:	n/a	n/a
4	CTCF	chr14:24765682-24767410	SK-N-SH	brain:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
5	POLR2A	chr14:24765549-24766301	HepG2	liver:	n/a	n/a
6	STAT5A	chr14:24765645-24766439	GM12878	blood:	n/a	n/a
7	MXI1	chr14:24765285-24766605	IMR90	lung:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24760425..24763261-chr14:24763604..24766558,4	MCF-7	breast:
2	chr14:24677987..24679713-chr14:24763984..24766313,2	K562	blood:
3	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
4	chr14:24732047..24734778-chr14:24764163..24766085,2	K562	blood:
5	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
6	chr14:24745018..24746771-chr14:24765412..24768322,2	K562	blood:
7	chr14:24717480..24720084-chr14:24765245..24767667,2	K562	blood:
8	chr14:24764989..24768278-chr14:24895035..24897150,3	K562	blood:
9	chr14:24765284..24770509-chr14:24899183..24903551,4	MCF-7	breast:
10	chr14:24763977..24766424-chr14:24767437..24769642,2	K562	blood:
11	chr14:24617565..24619359-chr14:24765168..24767839,2	K562	blood:
12	chr14:24711747..24713361-chr14:24764963..24767066,22	MCF-7	breast:
13	chr14:24711567..24712777-chr14:24765600..24767078,6	K562	blood:
14	chr14:24710819..24712965-chr14:24764278..24766988,3	K562	blood:
15	chr14:24765570..24768951-chr14:24773362..24777339,4	K562	blood:
16	chr14:24651098..24653035-chr14:24763980..24766397,2	K562	blood:

No data

Variant related genes	Relation type
NOP9	TF binding region
DHRS1	TF binding region
ENSG00000259522	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000092330	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1046587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1051883	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12881984	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12884896	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12885593	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12887789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891757	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12892146	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12892419	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12892579	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12895335	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12896469	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295307	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825586	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982889	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982890	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982891	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982892	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982894	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7146665	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7400863	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7401804	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs747060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8003991	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941507	0.96[CEU][hapmap];0.90[EUR][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2295306	CMTM5	cis	cerebellum	SCAN
rs2295306	ANG	cis	parietal	SCAN
rs2295306	RABGGTA	cis	multi-tissue	Pritchard
rs2295306	FAM158A	cis	parietal	SCAN
rs2295306	DHRS1	cis	brain	seeQTL
rs2295306	DHRS1	cis	cerebellum	SCAN
rs2295306	DHRS1	cis	multi-tissue	Pritchard
rs2295306	DHRS1	cis	Thyroid	GTEx
rs2295306	DHRS1	cis	parietal	SCAN
rs2295306	DHRS1	cis	Frontal Cortex	GTEx
rs2295306	RNF31	cis	cerebellum	SCAN
rs2295306	MYH6	cis	cerebellum	SCAN
rs2295306	TSSK4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
3	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
4	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
5	chr14:24753600-24766000	Weak transcription	Fetal Heart	heart
6	chr14:24753600-24768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:24756200-24765800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:24756400-24765800	Strong transcription	Fetal Intestine Small	intestine
9	chr14:24757600-24766000	Weak transcription	Stomach Mucosa	stomach
10	chr14:24757800-24766200	Strong transcription	Fetal Stomach	stomach
11	chr14:24758000-24766000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:24758400-24766000	Strong transcription	Fetal Intestine Large	intestine
13	chr14:24758400-24766400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr14:24758600-24765800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:24758600-24765800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:24758600-24766000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:24758600-24766000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr14:24758600-24766000	Strong transcription	Placenta	Placenta
19	chr14:24758800-24766000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:24759400-24766000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:24759800-24765800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:24759800-24765800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:24759800-24765800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:24759800-24766000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:24759800-24766600	Genic enhancers	Liver	Liver
26	chr14:24759800-24768000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:24760200-24765800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:24760200-24767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:24761400-24765800	Strong transcription	HepG2	liver
30	chr14:24761600-24767800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:24761800-24768400	Weak transcription	Small Intestine	intestine
32	chr14:24762000-24766000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:24762000-24768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:24762000-24768000	Weak transcription	Right Ventricle	heart
35	chr14:24763000-24765800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:24763600-24765800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr14:24763800-24766000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:24763800-24766000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:24764000-24765800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:24764000-24765800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr14:24764000-24766000	Strong transcription	Colonic Mucosa	Colon
42	chr14:24764200-24765800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:24764200-24766000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:24764400-24765800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:24764400-24765800	Strong transcription	Brain Hippocampus Middle	brain
46	chr14:24764400-24766000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:24764600-24765800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:24764600-24765800	Strong transcription	Adipose Nuclei	Adipose
49	chr14:24764600-24765800	Strong transcription	Aorta	Aorta
50	chr14:24764600-24765800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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