Variant report

Variant	rs6511018
Chromosome Location	chr19:19186705-19186706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19174573..19176948-chr19:19185401..19187540,2	K562	blood:
2	chr19:19170269..19180034-chr19:19180145..19188109,15	K562	blood:
3	chr19:19170033..19172795-chr19:19186417..19188109,2	K562	blood:
4	chr19:19185798..19187868-chr19:19189370..19191215,2	K562	blood:

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1007483	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10221504	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10403222	0.93[ASN][1000 genomes]
rs10404627	1.00[ASN][1000 genomes]
rs10405189	0.95[ASN][1000 genomes]
rs10405635	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409164	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410568	1.00[ASN][1000 genomes]
rs10414676	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10416783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10417974	1.00[ASW][hapmap];0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10421019	0.86[CEU][hapmap];0.87[TSI][hapmap]
rs10422335	0.86[ASN][1000 genomes]
rs10422906	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423742	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423815	0.95[ASN][1000 genomes]
rs1079543	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs10854005	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1124921	0.95[ASN][1000 genomes]
rs11666120	0.94[ASN][1000 genomes]
rs11666340	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11666627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670204	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11670239	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11729	0.86[CEU][hapmap];0.80[GIH][hapmap];0.91[TSI][hapmap]
rs11878368	0.92[ASN][1000 genomes]
rs12016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12975676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975754	0.90[ASN][1000 genomes]
rs12976302	0.97[ASN][1000 genomes]
rs12978822	0.85[ASN][1000 genomes]
rs12979565	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12979841	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12985799	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859267	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2012318	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];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107263	0.92[ASN][1000 genomes]
rs2158320	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2240095	0.93[ASN][1000 genomes]
rs2269806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2285851	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[ASN][1000 genomes]
rs2313736	0.92[ASN][1000 genomes]
rs2872394	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.95[ASN][1000 genomes]
rs3180770	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4808179	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808184	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808895	0.86[CEU][hapmap]
rs4808902	0.92[ASN][1000 genomes]
rs4808904	0.95[ASN][1000 genomes]
rs4808905	0.95[ASN][1000 genomes]
rs4808906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4808907	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4808911	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808913	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4808916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808923	0.86[CEU][hapmap];0.87[TSI][hapmap]
rs6511010	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6511014	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6511015	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511017	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511021	0.85[CHB][hapmap]
rs7248399	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7248651	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7248771	1.00[ASN][1000 genomes]
rs7250131	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253244	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7255937	1.00[ASN][1000 genomes]
rs7256648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257635	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7258637	0.95[ASN][1000 genomes]
rs7259510	0.95[ASN][1000 genomes]
rs7259609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs756792	0.92[CEU][hapmap];0.80[GIH][hapmap];0.87[TSI][hapmap]
rs757220	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs757221	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8101529	0.91[ASN][1000 genomes]
rs8103431	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104799	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8106146	0.86[CHB][hapmap];0.95[ASN][1000 genomes]
rs8107710	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109654	0.95[ASN][1000 genomes]
rs8110629	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[ASN][1000 genomes]
rs8111634	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8111635	0.92[ASN][1000 genomes]
rs8112566	0.93[ASN][1000 genomes]
rs916898	0.95[ASN][1000 genomes]
rs929215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9304959	0.95[ASN][1000 genomes]
rs9676917	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6511018	SFRS14	Cis_1M	lymphoblastoid	RTeQTL
rs6511018	ZNF14	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19175400-19207800	Weak transcription	Aorta	Aorta
2	chr19:19176400-19189200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr19:19176400-19190400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr19:19176400-19190600	Weak transcription	Esophagus	oesophagus
5	chr19:19176400-19192600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:19176400-19192600	Weak transcription	Right Atrium	heart
7	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:19176400-19215800	Weak transcription	NHLF	lung
10	chr19:19176600-19186800	Weak transcription	Dnd41	blood
11	chr19:19176600-19187200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr19:19176600-19187400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:19176600-19188400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:19176600-19190200	Weak transcription	Fetal Kidney	kidney
15	chr19:19176600-19194400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:19176600-19206800	Weak transcription	Fetal Brain Female	brain
17	chr19:19176600-19207200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:19176600-19208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:19177000-19210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:19177200-19204800	Weak transcription	Fetal Intestine Large	intestine
21	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
22	chr19:19178200-19187400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:19178400-19204800	Weak transcription	HepG2	liver
24	chr19:19178600-19198400	Weak transcription	Brain Substantia Nigra	brain
25	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:19180400-19187200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:19180400-19187600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr19:19180400-19189400	Strong transcription	Fetal Stomach	stomach
29	chr19:19180400-19192200	Weak transcription	Placenta	Placenta
30	chr19:19180400-19192400	Weak transcription	Adipose Nuclei	Adipose
31	chr19:19180400-19192400	Weak transcription	Left Ventricle	heart
32	chr19:19180400-19194600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:19180400-19195800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:19180400-19207200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:19180400-19207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:19180400-19208000	Weak transcription	Brain Angular Gyrus	brain
37	chr19:19180400-19208000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:19180400-19208200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
41	chr19:19180600-19188800	Weak transcription	Right Ventricle	heart
42	chr19:19180600-19208200	Weak transcription	Fetal Lung	lung
43	chr19:19180600-19213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:19181600-19188200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:19182400-19187400	Weak transcription	GM12878-XiMat	blood
48	chr19:19183600-19187000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr19:19183800-19187600	Strong transcription	Thymus	Thymus
50	chr19:19183800-19189400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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