Variant report

Variant	rs11851178
Chromosome Location	chr14:55502129-55502130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55500393..55503713-chr14:55510224..55513637,3	K562	blood:
2	chr14:55502120..55504478-chr14:55509469..55511671,2	MCF-7	breast:
3	chr14:55501256..55503493-chr14:55519727..55521826,2	K562	blood:
4	chr14:55501407..55503873-chr14:55516393..55519235,2	K562	blood:
5	chr14:55496919..55499734-chr14:55501558..55503499,2	K562	blood:
6	chr14:55500498..55503547-chr14:55504046..55507055,3	K562	blood:
7	chr14:55500498..55502436-chr14:55505187..55507055,2	K562	blood:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1002054	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs10135721	0.89[ASN][1000 genomes]
rs10145170	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10145268	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10220693	0.87[ASN][1000 genomes]
rs11622128	0.85[JPT][hapmap]
rs11625204	0.86[JPT][hapmap]
rs11626816	0.86[JPT][hapmap]
rs11627884	0.86[JPT][hapmap]
rs11849090	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11849878	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1187873	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1187874	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1187876	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1187877	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1187878	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1187881	0.84[ASN][1000 genomes]
rs1187882	0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1201378	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1209087	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1212641	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13379159	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs17128128	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128132	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];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128145	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17832311	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs1952085	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[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2147963	0.86[JPT][hapmap]
rs2251366	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2340943	0.82[ASN][1000 genomes]
rs3742564	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55843949	0.82[ASN][1000 genomes]
rs56725788	0.90[ASN][1000 genomes]
rs60805089	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6572999	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs6573000	0.88[ASN][1000 genomes]
rs7141975	0.88[ASN][1000 genomes]
rs7144652	1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.87[ASN][1000 genomes]
rs7149965	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151224	0.89[ASN][1000 genomes]
rs7151431	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7161656	0.89[ASN][1000 genomes]
rs748017	0.82[ASN][1000 genomes]
rs8005399	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs8008134	1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8012156	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs8021929	0.86[ASN][1000 genomes]
rs8022238	0.85[ASN][1000 genomes]
rs8022405	0.94[ASN][1000 genomes]
rs9323278	0.90[ASN][1000 genomes]
rs9671895	0.86[JPT][hapmap]
rs9806049	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.86[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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11851178	WDHD1	cis	parietal	SCAN
rs11851178	RPL13AP3	cis	cerebellum	SCAN
rs11851178	FBXO34	cis	cerebellum	SCAN
rs11851178	ATG14	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55494400-55509800	Weak transcription	Spleen	Spleen
2	chr14:55494400-55517600	Weak transcription	Lung	lung
3	chr14:55494600-55509800	Weak transcription	Gastric	stomach
4	chr14:55495000-55509800	Weak transcription	Ovary	ovary
5	chr14:55495000-55517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:55495000-55517600	Weak transcription	Esophagus	oesophagus
7	chr14:55495200-55504800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:55495200-55504800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:55495200-55507600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:55495200-55509800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:55495200-55510400	Weak transcription	Psoas Muscle	Psoas
12	chr14:55495200-55517600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:55495200-55517600	Weak transcription	Colonic Mucosa	Colon
14	chr14:55495200-55517800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:55495200-55517800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:55495400-55509800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:55495400-55517600	Weak transcription	Right Ventricle	heart
18	chr14:55495600-55503600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:55495600-55504200	Weak transcription	Small Intestine	intestine
20	chr14:55495600-55505400	Weak transcription	Fetal Stomach	stomach
21	chr14:55495600-55509800	Weak transcription	Aorta	Aorta
22	chr14:55495600-55509800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:55495600-55509800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:55495600-55510000	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:55495600-55510000	Weak transcription	Fetal Brain Female	brain
26	chr14:55495600-55517600	Weak transcription	Brain Substantia Nigra	brain
27	chr14:55495600-55517600	Weak transcription	Fetal Kidney	kidney
28	chr14:55495600-55517600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:55495800-55505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:55496000-55502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:55496000-55509800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:55496000-55510400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:55496200-55502800	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:55496200-55505000	Weak transcription	Stomach Mucosa	stomach
35	chr14:55496200-55509800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:55496200-55509800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:55496200-55509800	Weak transcription	NHLF	lung
38	chr14:55496200-55510000	Weak transcription	Brain Anterior Caudate	brain
39	chr14:55496200-55510400	Weak transcription	Brain Germinal Matrix	brain
40	chr14:55496200-55510400	Weak transcription	Fetal Lung	lung
41	chr14:55496200-55517600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:55496200-55517600	Weak transcription	Fetal Heart	heart
43	chr14:55496400-55502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:55496400-55503400	Weak transcription	Primary B cells from cord blood	blood
45	chr14:55496400-55510000	Weak transcription	Liver	Liver
46	chr14:55496400-55510000	Weak transcription	Fetal Brain Male	brain
47	chr14:55496800-55509600	Weak transcription	Thymus	Thymus
48	chr14:55496800-55510000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:55496800-55510000	Weak transcription	Brain Angular Gyrus	brain
50	chr14:55496800-55510200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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