Variant report

Variant	rs11607631
Chromosome Location	chr11:9549142-9549143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9549118..9551478-chr11:9570161..9571670,2	K562	blood:
2	chr11:9548940..9552769-chr11:9586407..9589954,6	MCF-7	breast:
3	chr11:9548599..9552302-chr11:9610096..9614093,4	K562	blood:
4	chr11:9546820..9549564-chr11:9551030..9552682,2	MCF-7	breast:
5	chr11:9546832..9549797-chr11:9594424..9596969,5	MCF-7	breast:
6	chr11:9481456..9483921-chr11:9548991..9551405,2	K562	blood:
7	chr11:9548204..9550324-chr11:9601758..9603593,2	K562	blood:
8	chr11:9547770..9558262-chr11:9588302..9599721,48	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238387	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000243869	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10082685	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840246	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042318	0.80[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11042365	0.84[EUR][1000 genomes]
rs11042367	0.84[EUR][1000 genomes]
rs11042379	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042401	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042402	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11600094	0.86[AMR][1000 genomes]
rs11600357	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11602025	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11602056	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274646	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12274655	0.86[AMR][1000 genomes]
rs12279202	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs12280032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280819	0.92[AMR][1000 genomes]
rs12284187	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12284407	0.86[AMR][1000 genomes]
rs12285570	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12286949	0.92[GIH][hapmap];0.81[TSI][hapmap]
rs12292907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293264	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293634	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12293911	0.87[EUR][1000 genomes]
rs12419780	0.86[AMR][1000 genomes]
rs1546	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16906804	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs36048375	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs4910052	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs4910054	0.81[AMR][1000 genomes]
rs4910466	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910467	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910469	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes]
rs4910471	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4910475	0.86[AMR][1000 genomes]
rs56116319	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56320702	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9988896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11607631	ZNF143	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:9523400-9550800	Weak transcription	Colonic Mucosa	Colon
3	chr11:9523400-9551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:9528800-9550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:9529200-9550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:9530200-9551000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:9531000-9550800	Weak transcription	Pancreas	Pancrea
8	chr11:9533400-9550600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:9534600-9556800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:9535200-9551200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:9535400-9550800	Weak transcription	Brain Anterior Caudate	brain
12	chr11:9535800-9550800	Weak transcription	Esophagus	oesophagus
13	chr11:9535800-9554800	Weak transcription	Ovary	ovary
14	chr11:9536200-9550600	Weak transcription	HSMMtube	muscle
15	chr11:9536200-9552400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:9536400-9554800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:9537400-9551200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:9538000-9550800	Weak transcription	Right Ventricle	heart
19	chr11:9538200-9550400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:9538200-9550800	Weak transcription	Brain Substantia Nigra	brain
21	chr11:9538800-9562000	Weak transcription	Small Intestine	intestine
22	chr11:9539000-9550800	Weak transcription	Brain Germinal Matrix	brain
23	chr11:9539800-9551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:9539800-9551000	Weak transcription	Dnd41	blood
25	chr11:9540000-9550600	Weak transcription	K562	blood
26	chr11:9541000-9550800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:9541200-9550400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:9541200-9550600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:9541200-9551800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:9545000-9555000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:9545800-9549200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:9546000-9550800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:9546200-9549600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:9546200-9551400	Strong transcription	Primary T cells from cord blood	blood
35	chr11:9546400-9549400	Strong transcription	Primary B cells from cord blood	blood
36	chr11:9546400-9549800	Strong transcription	Placenta	Placenta
37	chr11:9546400-9550000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:9546400-9550600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:9546400-9550800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:9546600-9550000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:9546600-9550800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:9546800-9549200	Strong transcription	HepG2	liver
43	chr11:9546800-9549600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:9546800-9551000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:9547000-9550600	Weak transcription	Fetal Heart	heart
46	chr11:9547200-9549400	Strong transcription	Fetal Brain Female	brain
47	chr11:9547200-9550800	Weak transcription	Psoas Muscle	Psoas
48	chr11:9547400-9550800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:9547400-9556400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:9547600-9549200	Weak transcription	Brain Hippocampus Middle	brain

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