Variant report

Variant	rs7693
Chromosome Location	chr14:104023704-104023705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104023625-104023938	K562	blood:	n/a	n/a
2	POLR2A	chr14:104023605-104024039	GM12891	blood:	n/a	n/a
3	POLR2A	chr14:104023611-104023952	GM12891	blood:	n/a	n/a
4	POLR2A	chr14:104023667-104023888	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:104023631-104023764	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr14:104023580-104023730	MCF-7	breast:	n/a	n/a
7	POLR2A	chr14:104023515-104023990	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:104023701-104023735	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:104023442-104024016	GM12892	blood:	n/a	n/a
10	CTCF	chr14:104023600-104023750	RPTEC	kidney:	n/a	n/a
11	POLR2A	chr14:104023496-104023970	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:104023518-104024021	GM12892	blood:	n/a	n/a
13	POLR2A	chr14:104023311-104024008	A549	lung:	n/a	n/a
14	POLR2A	chr14:104023433-104023900	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:104023356-104023908	GM12891	blood:	n/a	n/a
16	POLR2A	chr14:104021893-104023888	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103798179..103801931-chr14:104023610..104026874,4	MCF-7	breast:
2	chr14:104022338..104024927-chr14:104181805..104183745,2	MCF-7	breast:
3	chr14:104013569..104015477-chr14:104021457..104023719,2	K562	blood:
4	chr14:104018005..104022715-chr14:104023184..104028959,7	K562	blood:
5	chr14:104022023..104026446-chr14:104027134..104030443,10	MCF-7	breast:
6	chr14:104013318..104015138-chr14:104023392..104025223,2	MCF-7	breast:
7	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:
8	chr14:104021728..104024444-chr14:104089391..104091550,2	K562	blood:

No data

Variant related genes	Relation type
KLC1	TF binding region
ENSG00000126215	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000258851	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10134399	0.87[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.95[TSI][hapmap]
rs10135248	0.80[CEU][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs10140410	0.90[EUR][1000 genomes]
rs10143293	0.91[EUR][1000 genomes]
rs10149249	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11621777	0.90[EUR][1000 genomes]
rs11622552	0.83[JPT][hapmap]
rs11626658	0.88[EUR][1000 genomes]
rs11626905	0.84[JPT][hapmap]
rs2274268	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2274269	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2403205	0.80[CEU][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs28513222	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28514618	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28660416	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28744517	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783404	0.80[CEU][hapmap];0.91[JPT][hapmap]
rs55864158	0.91[EUR][1000 genomes]
rs56017123	0.89[EUR][1000 genomes]
rs57447494	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59281218	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60802358	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61996716	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61996717	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61996718	0.86[ASN][1000 genomes]
rs61996721	0.90[EUR][1000 genomes]
rs709400	0.80[CEU][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap]
rs7142883	0.89[EUR][1000 genomes]
rs7150141	0.80[CEU][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs7154587	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154948	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];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861528	0.91[JPT][hapmap]
rs861531	0.80[CEU][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs861534	0.81[JPT][hapmap]
rs861536	0.80[CEU][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs861539	0.84[CEU][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs942863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv976818	chr14:104023424-104029394	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7693	C14orf153	cis	cerebellum	SCAN
rs7693	DIO3	cis	cerebellum	SCAN
rs7693	BAG5	cis	cerebellum	SCAN
rs7693	BAG5	cis	Liver	GTEx
rs7693	C14orf153	cis	parietal	SCAN
rs7693	RCOR1	cis	multi-tissue	Pritchard
rs7693	MARK3	cis	Thyroid	GTEx
rs7693	ZFYVE21	cis	cerebellum	SCAN
rs7693	WDR20	cis	cerebellum	SCAN
rs7693	KLC1	cis	parietal	SCAN
rs7693	BAG5	cis	multi-tissue	Pritchard
rs7693	NCRNA00221	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104007200-104024400	Weak transcription	Fetal Kidney	kidney
2	chr14:104010600-104024200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:104010600-104025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:104011400-104025000	Weak transcription	Ovary	ovary
5	chr14:104011400-104027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:104013200-104024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:104013600-104024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:104013600-104027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:104013800-104024600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:104017400-104024400	Weak transcription	HepG2	liver
11	chr14:104017400-104024800	Weak transcription	GM12878-XiMat	blood
12	chr14:104017400-104025800	Weak transcription	Fetal Brain Male	brain
13	chr14:104017600-104027200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:104017800-104024800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:104018200-104024400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:104018200-104026200	Weak transcription	Pancreas	Pancrea
17	chr14:104018200-104026400	Weak transcription	Small Intestine	intestine
18	chr14:104018600-104024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:104019000-104026800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:104019200-104024400	Enhancers	Colon Smooth Muscle	Colon
21	chr14:104019200-104024800	Weak transcription	Hela-S3	cervix
22	chr14:104019200-104026200	Weak transcription	Aorta	Aorta
23	chr14:104019200-104027600	Weak transcription	Colonic Mucosa	Colon
24	chr14:104019400-104024400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:104019400-104024400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:104019400-104024400	Weak transcription	HSMM	muscle
27	chr14:104019400-104025000	Weak transcription	A549	lung
28	chr14:104019400-104026200	Weak transcription	Esophagus	oesophagus
29	chr14:104019600-104023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:104019600-104024200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:104019600-104024400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:104019600-104024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:104019800-104024400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:104019800-104024600	Weak transcription	HMEC	breast
35	chr14:104019800-104025000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:104019800-104027600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:104020000-104024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:104020800-104026800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:104021000-104024800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:104021600-104023800	Weak transcription	Primary T cells from cord blood	blood
41	chr14:104021600-104023800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:104021600-104024000	Weak transcription	Fetal Intestine Small	intestine
43	chr14:104021600-104024800	Weak transcription	Stomach Mucosa	stomach
44	chr14:104021800-104027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:104022200-104024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:104022200-104024400	Weak transcription	Lung	lung
47	chr14:104022400-104024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:104022400-104024400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:104022400-104024600	Weak transcription	Thymus	Thymus
50	chr14:104022600-104024000	Weak transcription	Fetal Muscle Trunk	muscle

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