Variant report

Variant	rs1957546
Chromosome Location	chr14:81639984-81639985
allele	A/G
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:11)
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	chr14:81639545-81642120	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81635321..81638363-chr14:81638516..81643348,6	MCF-7	breast:
2	chr14:81637815..81640374-chr14:81649220..81650814,2	K562	blood:
3	chr14:81639213..81642990-chr14:81685332..81688548,6	K562	blood:
4	chr14:81638146..81640079-chr14:81645451..81648200,3	MCF-7	breast:
5	chr14:81635245..81640402-chr14:81683793..81689293,8	MCF-7	breast:
6	chr14:81632472..81635066-chr14:81638659..81640939,2	K562	blood:
7	chr14:81632445..81635289-chr14:81638847..81642115,4	K562	blood:
8	chr14:81639700..81642191-chr14:81644635..81646691,2	K562	blood:
9	chr14:81634129..81641173-chr14:81683190..81688873,17	MCF-7	breast:
10	chr14:81635464..81641822-chr14:81682247..81689009,10	K562	blood:
11	chr14:81636805..81638447-chr14:81638782..81640342,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258999	TF binding region
ENSG00000258999	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10133562	0.87[CHB][hapmap];0.80[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs10149681	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1035948	0.81[CHD][hapmap]
rs10483975	0.86[CHB][hapmap]
rs11159493	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs11159494	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs11621116	0.91[CHB][hapmap]
rs11850714	0.80[ASN][1000 genomes]
rs12147118	0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12586249	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12590764	0.90[ASN][1000 genomes]
rs1864167	0.87[CHD][hapmap]
rs1864169	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1885601	0.83[CHB][hapmap];0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs1951614	0.84[CHD][hapmap]
rs1951616	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2099108	0.92[ASN][1000 genomes]
rs2241621	0.87[CHB][hapmap]
rs2241622	0.91[CHB][hapmap];1.00[MEX][hapmap]
rs2288498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2288499	0.85[CHD][hapmap]
rs28890880	0.85[ASN][1000 genomes]
rs3815953	0.85[CHD][hapmap]
rs4363794	0.92[ASN][1000 genomes]
rs4640110	0.80[EUR][1000 genomes]
rs4899786	1.00[ASW][hapmap];0.90[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6574631	0.85[CHD][hapmap]
rs7142641	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7144005	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7148100	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7149672	0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7161073	0.83[CHB][hapmap]
rs8004096	0.92[ASN][1000 genomes]
rs8006036	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8007841	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8009888	0.80[AMR][1000 genomes]
rs8010219	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8011097	0.90[ASN][1000 genomes]
rs8014406	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016352	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016982	0.87[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs8021125	0.90[ASN][1000 genomes]
rs8021385	0.90[ASN][1000 genomes]
rs9806020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9806027	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1957546	GSTZ1	cis	parietal	SCAN
rs1957546	C14orf4	cis	parietal	SCAN
rs1957546	ADCK1	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81640400	Weak transcription	Aorta	Aorta
2	chr14:81637000-81646400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:81637000-81647000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:81637000-81652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:81637000-81659000	Weak transcription	Esophagus	oesophagus
6	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
7	chr14:81637200-81640000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:81637200-81640200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:81637200-81643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:81637200-81643800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:81637200-81644800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:81637200-81645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:81637200-81645600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:81637200-81646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:81637200-81646800	Weak transcription	Fetal Intestine Small	intestine
16	chr14:81637200-81648400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:81637200-81650000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:81637200-81650200	Weak transcription	Fetal Lung	lung
19	chr14:81637200-81651400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:81637200-81651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:81637200-81652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:81637200-81652600	Weak transcription	NHEK	skin
23	chr14:81637200-81652800	Weak transcription	Fetal Stomach	stomach
24	chr14:81637200-81653000	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:81637200-81658200	Weak transcription	HSMMtube	muscle
26	chr14:81637200-81658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:81637200-81658800	Weak transcription	Colonic Mucosa	Colon
28	chr14:81637200-81658800	Weak transcription	Left Ventricle	heart
29	chr14:81637400-81642000	Weak transcription	Primary B cells from cord blood	blood
30	chr14:81637400-81642400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:81637400-81642800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:81637400-81643600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:81637400-81643600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:81637400-81644200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:81637400-81644600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:81637400-81645600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:81637400-81646000	Weak transcription	K562	blood
38	chr14:81637400-81646200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:81637400-81646200	Weak transcription	Fetal Thymus	thymus
40	chr14:81637400-81646400	Weak transcription	Fetal Intestine Large	intestine
41	chr14:81637400-81646400	Weak transcription	Thymus	Thymus
42	chr14:81637400-81646600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:81637400-81646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:81637400-81648200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:81637400-81649800	Weak transcription	HepG2	liver
46	chr14:81637400-81650000	Weak transcription	Adipose Nuclei	Adipose
47	chr14:81637400-81650000	Weak transcription	Fetal Kidney	kidney
48	chr14:81637400-81651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:81637400-81651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:81637400-81652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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