Variant report

Variant	rs12586322
Chromosome Location	chr14:104154882-104154883
allele	C/G
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	chr14:104154781-104156308	A549	lung:	n/a	n/a
2	POLR2A	chr14:104154814-104155094	K562	blood:	n/a	n/a
3	POLR2A	chr14:104154833-104155005	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:104154860-104154947	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:104154865-104156285	K562	blood:	n/a	n/a
6	POLR2A	chr14:104154663-104156224	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104153451..104157331-chr14:104158433..104160697,4	MCF-7	breast:
2	chr14:104151812..104156751-chr14:104171759..104176142,6	K562	blood:
3	chr14:104154470..104157161-chr14:104195368..104197500,2	K562	blood:

Variant related genes	Relation type
ENSG00000246451	TF binding region
KLC1	TF binding region
ENSG00000126215	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1125415	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12432907	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12432994	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12436795	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12881418	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12889869	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1799794	0.93[EUR][1000 genomes]
rs3212103	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3212136	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35140615	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35469050	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4561394	0.81[EUR][1000 genomes]
rs4900587	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4906352	0.83[EUR][1000 genomes]
rs4906359	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55647815	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59021304	0.89[EUR][1000 genomes]
rs61436277	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7154572	0.83[EUR][1000 genomes]
rs8007903	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1041347	chr14:104141217-104186372	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking 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	36 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12586322	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104097400-104156600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:104117800-104157000	Strong transcription	Dnd41	blood
3	chr14:104117800-104176000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:104118800-104175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104119200-104155600	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:104119200-104173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:104119400-104157000	Strong transcription	Fetal Thymus	thymus
8	chr14:104119400-104161800	Strong transcription	Fetal Intestine Small	intestine
9	chr14:104119400-104164600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:104120200-104155000	Strong transcription	Fetal Brain Female	brain
13	chr14:104120200-104161400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:104120200-104161800	Strong transcription	Fetal Intestine Large	intestine
15	chr14:104120400-104157000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:104120400-104157000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr14:104120400-104161200	Strong transcription	Fetal Stomach	stomach
18	chr14:104120600-104155000	Strong transcription	Brain Germinal Matrix	brain
19	chr14:104120800-104157200	Strong transcription	Thymus	Thymus
20	chr14:104121000-104162000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:104123400-104155200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:104124600-104169800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:104124600-104169800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:104125200-104155400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:104130600-104159600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr14:104130800-104155600	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr14:104131000-104161800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:104131400-104155200	Strong transcription	Brain Anterior Caudate	brain
29	chr14:104132000-104155000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:104132800-104156000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:104133400-104177200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:104133800-104157000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:104134000-104156400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:104134000-104157000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:104134000-104157000	Strong transcription	Primary T cells from cord blood	blood
36	chr14:104134200-104155400	Strong transcription	Rectal Smooth Muscle	rectum
37	chr14:104134200-104155800	Strong transcription	Colonic Mucosa	Colon
38	chr14:104134200-104156800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:104134200-104157200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr14:104134200-104161600	Strong transcription	NHDF-Ad	bronchial
41	chr14:104135600-104177600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:104136000-104155000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:104139800-104164400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr14:104140000-104155600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:104143600-104155400	Weak transcription	Right Atrium	heart
46	chr14:104143600-104158600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:104143600-104162400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:104145200-104155800	Strong transcription	HepG2	liver
49	chr14:104145400-104155600	Strong transcription	Gastric	stomach
50	chr14:104145400-104157200	Strong transcription	A549	lung

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