Variant report

Variant	rs2295147
Chromosome Location	chr14:104195664-104195665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr14:104195486-104195779	T-47D	breast:	n/a	n/a
2	FOXA1	chr14:104195417-104195804	T-47D	breast:	n/a	n/a
3	POLR2A	chr14:104195528-104196196	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:104195642-104197521	SK-N-MC	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103986881..103989564-chr14:104195653..104197565,2	K562	blood:
2	chr14:104182047..104187446-chr14:104194338..104198036,7	K562	blood:
3	chr14:104191628..104193372-chr14:104193675..104196538,2	K562	blood:
4	chr14:104189773..104192879-chr14:104194164..104195962,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL049840.1-2	chr14:104195428-104197782	NONHSAT040207

No data

Variant related genes	Relation type
ENSG00000253096	TF binding region
ZFYVE21	TF binding region
ENSG00000166165	Chromatin interaction
ENSG00000253096	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11627258	0.83[AMR][1000 genomes]
rs12433009	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12433109	0.85[CEU][hapmap]
rs12437066	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1547604	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs1955660	0.85[CEU][hapmap];0.81[CHB][hapmap];0.82[GIH][hapmap]
rs2024669	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap]
rs2144079	0.81[AMR][1000 genomes]
rs2144080	0.81[AMR][1000 genomes]
rs2295140	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2295146	0.89[CEU][hapmap]
rs2295148	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2295151	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2368558	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2368559	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3212124	1.00[YRI][hapmap]
rs3742365	0.85[CEU][hapmap]
rs4906368	0.82[AMR][1000 genomes]
rs6576003	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs7141928	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.84[MKK][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8014294	0.90[ASW][hapmap];0.80[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap]
rs941473	1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs941474	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs941475	0.91[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.84[MKK][hapmap];0.83[AMR][1000 genomes];0.80[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	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription 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 target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS 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
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1048866	chr14:104100862-104195896	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
12	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv902309	chr14:104143385-104198251	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS 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	36 gene(s)	inside rSNPs	diseases
14	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised 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	56 gene(s)	inside rSNPs	diseases
16	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
17	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv527425	chr14:104162263-104198251	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
21	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2295147	BAG5	cis	multi-tissue	Pritchard
rs2295147	TRAF3	cis	cerebellum	SCAN
rs2295147	ZFYVE21	cis	cerebellum	SCAN
rs2295147	C14orf153	cis	parietal	SCAN
rs2295147	KLC1	cis	parietal	SCAN
rs2295147	RP11-73M18.8	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104183400-104200600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:104184000-104201200	Weak transcription	HUVEC	blood vessel
3	chr14:104184000-104209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:104184400-104211000	Weak transcription	Hela-S3	cervix
6	chr14:104186800-104195800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:104189400-104203200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:104190600-104196000	Strong transcription	Thymus	Thymus
9	chr14:104190600-104198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:104190600-104199600	Strong transcription	Dnd41	blood
11	chr14:104190600-104202000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:104190800-104198400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:104190800-104204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:104191000-104202000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:104191000-104202200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:104191000-104203200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:104191200-104209200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:104191400-104201400	Strong transcription	Fetal Stomach	stomach
19	chr14:104191400-104201600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:104191600-104197400	Genic enhancers	Right Ventricle	heart
21	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:104191800-104197000	Weak transcription	Right Atrium	heart
23	chr14:104191800-104201600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:104192000-104196000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:104192000-104197200	Strong transcription	Adipose Nuclei	Adipose
26	chr14:104192000-104201000	Strong transcription	NHLF	lung
27	chr14:104192200-104198000	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr14:104192200-104199200	Strong transcription	NHEK	skin
29	chr14:104192200-104200400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:104192200-104201000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr14:104192200-104201600	Strong transcription	Placenta	Placenta
32	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:104192400-104196200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:104192400-104196600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:104192400-104197200	Strong transcription	Rectal Smooth Muscle	rectum
36	chr14:104192400-104198400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr14:104193200-104200000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:104193400-104196400	Strong transcription	Spleen	Spleen
39	chr14:104193400-104201400	Strong transcription	Fetal Muscle Leg	muscle
40	chr14:104193800-104197000	Genic enhancers	Gastric	stomach
41	chr14:104193800-104197400	Genic enhancers	Esophagus	oesophagus
42	chr14:104194000-104196400	Strong transcription	Liver	Liver
43	chr14:104194000-104196400	Strong transcription	Ovary	ovary
44	chr14:104194000-104196600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr14:104194000-104196800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr14:104194000-104196800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:104194000-104197000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:104194000-104198200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:104194000-104198800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:104194000-104199200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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