Variant report

Variant	rs11845550
Chromosome Location	chr14:31923832-31923833
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31675457..31678157-chr14:31923548..31926271,3	MCF-7	breast:
2	chr14:31918485..31921453-chr14:31921609..31924237,3	MCF-7	breast:
3	chr14:31857830..31860114-chr14:31922683..31925572,2	K562	blood:
4	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
5	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
6	chr14:31923625..31927013-chr14:32030157..32032112,3	K562	blood:

Variant related genes	Relation type
ENSG00000151413	Chromatin interaction
ENSG00000250365	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000257155	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10134812	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10138925	0.85[EUR][1000 genomes]
rs10147284	0.92[EUR][1000 genomes]
rs10150938	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10151479	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11156667	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs11156673	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11620714	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11625148	0.81[EUR][1000 genomes]
rs11845830	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11846073	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11847017	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11847614	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11850265	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11850273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11851140	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12436396	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590885	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12881016	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12881925	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12891556	0.96[EUR][1000 genomes]
rs12891787	0.99[EUR][1000 genomes]
rs12892435	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12893465	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs13176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888576	0.85[CEU][hapmap]
rs1958027	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2094906	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2182254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274291	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs34182758	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34278949	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34704647	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35483550	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981100	0.98[EUR][1000 genomes]
rs4981101	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4981849	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981850	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981851	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5016597	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61180027	0.89[ASN][1000 genomes]
rs6571423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6571426	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149165	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149522	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7153450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154915	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7157390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159566	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8005942	0.80[EUR][1000 genomes]
rs8006990	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8007488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8007946	0.93[EUR][1000 genomes]
rs8008016	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8010209	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8011206	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv456198	chr14:31919728-31972289	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv564179	chr14:31919728-31972289	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11845550	C14orf126	Cis_1M	lymphoblastoid	RTeQTL
rs11845550	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
2	chr14:31890800-31925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr14:31904600-31925200	Weak transcription	Fetal Brain Male	brain
4	chr14:31905200-31925800	Weak transcription	NHDF-Ad	bronchial
5	chr14:31907000-31925200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:31910600-31924400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:31911000-31925200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:31911000-31925200	Weak transcription	K562	blood
9	chr14:31911200-31925800	Weak transcription	Fetal Intestine Small	intestine
10	chr14:31911600-31925200	Weak transcription	Placenta	Placenta
11	chr14:31911600-31926000	Weak transcription	Lung	lung
12	chr14:31912000-31925800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:31912200-31925200	Weak transcription	HSMMtube	muscle
14	chr14:31912200-31925200	Weak transcription	NHLF	lung
15	chr14:31913600-31925200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31914000-31926000	Weak transcription	Small Intestine	intestine
17	chr14:31914800-31925200	Weak transcription	Fetal Stomach	stomach
18	chr14:31915200-31925200	Weak transcription	Primary T cells from cord blood	blood
19	chr14:31915800-31924000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:31915800-31925200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:31916000-31925200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:31916000-31925800	Weak transcription	Thymus	Thymus
23	chr14:31916000-31926000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:31918600-31926000	Weak transcription	Gastric	stomach
25	chr14:31919400-31925200	Weak transcription	HUVEC	blood vessel
26	chr14:31919600-31925200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:31919600-31925600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:31919600-31926000	Weak transcription	Spleen	Spleen
29	chr14:31919800-31926000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:31919800-31926000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:31921200-31926000	Weak transcription	Esophagus	oesophagus
32	chr14:31921400-31925200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:31921600-31924400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:31921600-31925000	Weak transcription	NHEK	skin
35	chr14:31921600-31925400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:31921600-31925400	Weak transcription	HSMM	muscle
37	chr14:31921600-31925600	Weak transcription	Psoas Muscle	Psoas
38	chr14:31921800-31924400	Weak transcription	HMEC	breast
39	chr14:31921800-31925200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:31921800-31925200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:31921800-31925200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:31921800-31925400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:31921800-31925400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:31921800-31925600	Weak transcription	Fetal Kidney	kidney
45	chr14:31921800-31925800	Weak transcription	Fetal Thymus	thymus
46	chr14:31922000-31925200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:31922000-31925200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:31922000-31925200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:31922000-31925200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:31922000-31925200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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