Variant report

Variant	rs10143623
Chromosome Location	chr14:104186876-104186877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104182047..104187446-chr14:104194338..104198036,7	K562	blood:
2	chr14:104186726..104188595-chr14:104191405..104193611,2	MCF-7	breast:
3	chr14:104186236..104189983-chr14:104311936..104314683,3	MCF-7	breast:
4	chr14:104090146..104091917-chr14:104185112..104187505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253096	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10135248	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10145755	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10147049	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11624505	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11849259	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2403205	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783404	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3915733	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55885592	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56660916	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57218990	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58133129	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61995780	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6593	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs709400	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7150141	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7359090	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8005885	0.88[AMR][1000 genomes]
rs8018979	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs861528	0.96[ASN][1000 genomes]
rs861531	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs861534	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs861536	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs861538	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs861539	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs861548	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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
22	nsv902315	chr14:104165927-104190527	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS 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	28 gene(s)	inside rSNPs	diseases
23	nsv902316	chr14:104173823-104195161	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv902317	chr14:104175676-104194278	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription 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	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10143623	APOPT1	cis	Muscle Skeletal	GTEx
rs10143623	BAG5	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104183200-104191800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr14:104183400-104189400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:104183400-104192400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr14:104183400-104195000	Weak transcription	Primary B cells from cord blood	blood
5	chr14:104183400-104200600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:104183600-104187600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:104183600-104187600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:104183600-104187600	Weak transcription	A549	lung
9	chr14:104183600-104187600	Weak transcription	Osteobl	bone
10	chr14:104183600-104189400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:104183600-104189400	Weak transcription	Psoas Muscle	Psoas
12	chr14:104183600-104189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:104183600-104189800	Weak transcription	Aorta	Aorta
14	chr14:104183600-104192200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:104183600-104192400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:104183600-104192600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:104183600-104194200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:104183600-104194200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:104183600-104194200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:104183600-104194800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:104183600-104195000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:104183600-104195200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:104183800-104187600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:104183800-104188000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:104183800-104188400	Genic enhancers	Fetal Muscle Leg	muscle
26	chr14:104183800-104189200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:104183800-104189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:104183800-104194000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:104183800-104194200	Strong transcription	Fetal Intestine Small	intestine
30	chr14:104183800-104194600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:104183800-104195200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:104183800-104195400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:104184000-104187600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:104184000-104188200	Enhancers	Fetal Thymus	thymus
35	chr14:104184000-104189400	Weak transcription	Colonic Mucosa	Colon
36	chr14:104184000-104189400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:104184000-104191200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:104184000-104192200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:104184000-104195400	Weak transcription	Fetal Kidney	kidney
40	chr14:104184000-104201200	Weak transcription	HUVEC	blood vessel
41	chr14:104184000-104209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:104184200-104187600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:104184200-104187800	Weak transcription	Gastric	stomach
44	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:104184400-104187400	Weak transcription	HMEC	breast
46	chr14:104184400-104187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:104184400-104189400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr14:104184400-104211000	Weak transcription	Hela-S3	cervix
49	chr14:104184600-104187400	Enhancers	Thymus	Thymus
50	chr14:104184600-104189200	Weak transcription	Brain Substantia Nigra	brain

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