Variant report

Variant	rs11158785
Chromosome Location	chr14:69553420-69553421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69444633..69447006-chr14:69552248..69554665,3	MCF-7	breast:
2	chr14:69547127..69549589-chr14:69553364..69555447,2	K562	blood:
3	chr14:69548253..69551559-chr14:69552320..69554344,3	MCF-7	breast:
4	chr14:69525287..69527543-chr14:69551601..69554143,2	K562	blood:
5	chr14:69444534..69446893-chr14:69551925..69555091,4	MCF-7	breast:
6	chr14:69258210..69261150-chr14:69551788..69553676,2	K562	blood:
7	chr14:69259378..69261150-chr14:69551788..69554130,2	K562	blood:

Variant related genes	Relation type
ENSG00000259165	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1013762	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs10146649	0.80[ASN][1000 genomes]
rs10148349	0.81[GIH][hapmap]
rs10498527	0.83[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1105625	0.83[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11158784	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158786	0.82[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11158789	0.86[ASN][1000 genomes]
rs1147481	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs11626985	1.00[JPT][hapmap]
rs11627004	1.00[JPT][hapmap]
rs11627476	1.00[JPT][hapmap]
rs11628126	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1275407	0.87[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs1275414	0.80[ASN][1000 genomes]
rs1275415	0.87[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs1275417	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1275419	0.92[GIH][hapmap];0.81[MEX][hapmap]
rs1626122	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629783	1.00[CHB][hapmap];0.89[GIH][hapmap];0.82[YRI][hapmap]
rs1710989	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1710990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1710993	1.00[CHB][hapmap]
rs1892297	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs1914004	1.00[JPT][hapmap]
rs1950712	1.00[JPT][hapmap]
rs2001355	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2176255	1.00[JPT][hapmap]
rs2331918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs3173	0.83[CEU][hapmap]
rs3742905	1.00[JPT][hapmap]
rs4899280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4902695	0.95[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs67313346	0.91[EUR][1000 genomes]
rs7141235	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7144704	1.00[JPT][hapmap]
rs7150225	0.83[EUR][1000 genomes]
rs8008141	1.00[JPT][hapmap]
rs9323521	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11158785	SYNJ2BP	cis	cerebellum	SCAN
rs11158785	RAD51L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
2	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
7	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
8	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr14:69536200-69556400	Weak transcription	K562	blood
11	chr14:69540400-69560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:69541000-69556200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:69541000-69556400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:69541400-69553600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:69541400-69559800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:69541600-69556400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:69541800-69553800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:69542000-69554600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:69542600-69570600	Strong transcription	Primary T cells from cord blood	blood
20	chr14:69543000-69559000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:69545800-69559000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:69546000-69563200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:69546200-69556400	Weak transcription	Gastric	stomach
24	chr14:69546200-69556400	Weak transcription	Right Ventricle	heart
25	chr14:69546200-69559000	Strong transcription	GM12878-XiMat	blood
26	chr14:69546200-69559200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:69546200-69583000	Weak transcription	Psoas Muscle	Psoas
28	chr14:69546400-69557600	Weak transcription	Pancreas	Pancrea
29	chr14:69546400-69558600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:69546600-69558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:69546800-69554800	Weak transcription	Fetal Kidney	kidney
32	chr14:69546800-69558000	Weak transcription	Small Intestine	intestine
33	chr14:69547000-69555400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:69547200-69555600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:69547200-69557800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:69547200-69560400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:69547600-69559200	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:69547600-69559400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:69547800-69558800	Strong transcription	Left Ventricle	heart
40	chr14:69548000-69558600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:69548000-69558800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr14:69548000-69560200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:69548000-69563000	Strong transcription	Fetal Thymus	thymus
44	chr14:69548000-69563600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr14:69548200-69553800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:69548200-69554000	Strong transcription	Dnd41	blood
47	chr14:69548200-69555000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr14:69548200-69559200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr14:69548200-69567400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr14:69548400-69559400	Strong transcription	Primary monocytes fromperipheralblood	blood

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