Variant report

Variant	rs942866
Chromosome Location	chr14:104014935-104014936
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104014852-104015527	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104013569..104015477-chr14:104021457..104023719,2	K562	blood:
2	chr14:104013318..104015138-chr14:104023392..104025223,2	MCF-7	breast:
3	chr14:103966734..103968731-chr14:104012541..104016540,3	MCF-7	breast:
4	chr14:104014533..104016298-chr14:104025800..104028102,2	K562	blood:
5	chr14:104013579..104015507-chr14:104018184..104020087,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258851	TF binding region
RNU7-160P	TF binding region
ENSG00000258851	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10129426	0.84[CHD][hapmap];0.83[JPT][hapmap]
rs10141157	0.83[JPT][hapmap]
rs10149470	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs1107070	0.81[JPT][hapmap]
rs2071407	0.84[GIH][hapmap]
rs2403193	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61996704	0.81[ASN][1000 genomes]
rs8018400	0.81[JPT][hapmap]
rs911552	0.86[CHB][hapmap]
rs911554	0.86[CHB][hapmap]
rs911555	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 target site	125 gene(s)	inside rSNPs	diseases
2	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
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	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
10	nsv902302	chr14:103979953-104018455	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv827068	chr14:103982866-104021347	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	esv1835145	chr14:103984294-104014935	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers 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	41 gene(s)	inside rSNPs	diseases
17	esv1819920	chr14:103989971-104018096	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv9170	chr14:103994260-104017971	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
19	esv1825092	chr14:104005264-104022171	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs942866	BAG5	cis	cerebellum	SCAN
rs942866	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs942866	KLC1	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:104003000-104018400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104006000-104017800	Weak transcription	Aorta	Aorta
6	chr14:104007200-104024400	Weak transcription	Fetal Kidney	kidney
7	chr14:104009800-104015600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:104009800-104023400	Weak transcription	Fetal Thymus	thymus
9	chr14:104010000-104017000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:104010000-104017800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:104010000-104023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:104010200-104015200	Weak transcription	HSMMtube	muscle
13	chr14:104010200-104016600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:104010200-104023600	Weak transcription	Liver	Liver
15	chr14:104010400-104015400	Weak transcription	Right Atrium	heart
16	chr14:104010400-104015600	Weak transcription	HepG2	liver
17	chr14:104010400-104017800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:104010400-104023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:104010600-104015800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:104010600-104016800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:104010600-104024200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:104010600-104025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:104011200-104015400	Weak transcription	Colonic Mucosa	Colon
24	chr14:104011200-104015400	Weak transcription	Left Ventricle	heart
25	chr14:104011200-104016200	Weak transcription	Fetal Heart	heart
26	chr14:104011200-104016200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:104011200-104016400	Weak transcription	NHDF-Ad	bronchial
28	chr14:104011200-104017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:104011200-104017200	Weak transcription	NHLF	lung
30	chr14:104011400-104016200	Weak transcription	Fetal Intestine Large	intestine
31	chr14:104011400-104016400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:104011400-104016600	Weak transcription	Fetal Lung	lung
33	chr14:104011400-104017400	Weak transcription	Lung	lung
34	chr14:104011400-104025000	Weak transcription	Ovary	ovary
35	chr14:104011400-104027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:104011600-104016000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:104011600-104018600	Weak transcription	Primary T cells from cord blood	blood
38	chr14:104012800-104015200	Weak transcription	HSMM	muscle
39	chr14:104012800-104016800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:104013200-104017600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:104013200-104022200	Weak transcription	Thymus	Thymus
42	chr14:104013200-104024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:104013400-104015000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:104013400-104015000	Weak transcription	Fetal Brain Female	brain
45	chr14:104013400-104015000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:104013400-104015200	Weak transcription	Esophagus	oesophagus
47	chr14:104013400-104015600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:104013400-104015800	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr14:104013400-104016000	Weak transcription	Stomach Mucosa	stomach
50	chr14:104013400-104016200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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