Variant report

Variant	rs12295754
Chromosome Location	chr11:10011737-10011738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10011394..10012992-chr11:10327878..10330326,2	MCF-7	breast:
2	chr11:10010659..10013525-chr11:10017615..10019134,2	K562	blood:
3	chr11:10002720..10004321-chr11:10011527..10014066,2	K562	blood:
4	chr11:10004750..10006557-chr11:10010668..10012877,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10160515	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770080	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10770085	0.88[AMR][1000 genomes]
rs10840331	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10840332	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10840335	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10840339	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840342	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042575	0.84[EUR][1000 genomes]
rs11042581	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042583	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11042598	0.85[AMR][1000 genomes]
rs2403228	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2403259	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2403268	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4309158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909918	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4910085	0.88[AMR][1000 genomes]
rs4910088	0.83[AMR][1000 genomes]
rs4910089	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6483846	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6483860	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6483883	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66922162	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7128698	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7129239	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7933482	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7936351	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7942420	0.81[AMR][1000 genomes]
rs7947588	0.88[AMR][1000 genomes]
rs7950140	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
2	nsv896988	chr11:9912052-10012511	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv896989	chr11:9951968-10059623	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv1819684	chr11:9973062-10012511	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9981000-10020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:9981400-10014800	Weak transcription	Dnd41	blood
3	chr11:9981400-10017000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:9981400-10051600	Weak transcription	Aorta	Aorta
5	chr11:9983600-10023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:9985800-10021600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:9985800-10023600	Weak transcription	Primary B cells from cord blood	blood
8	chr11:9985800-10049000	Weak transcription	Left Ventricle	heart
9	chr11:9990000-10012600	Weak transcription	Liver	Liver
10	chr11:9990000-10018200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:9990400-10028200	Weak transcription	Fetal Brain Female	brain
12	chr11:9991200-10060000	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:9994800-10041800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:9996000-10024600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:9999600-10019800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:9999800-10024000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:9999800-10024200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:10001400-10066200	Weak transcription	Pancreas	Pancrea
19	chr11:10002800-10016000	Weak transcription	Colonic Mucosa	Colon
20	chr11:10003800-10014800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:10004000-10020000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:10004200-10048600	Weak transcription	Brain Angular Gyrus	brain
23	chr11:10004400-10020200	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:10004400-10021600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:10004400-10024200	Weak transcription	NHLF	lung
26	chr11:10004600-10021800	Weak transcription	Esophagus	oesophagus
27	chr11:10004600-10024000	Weak transcription	Brain Anterior Caudate	brain
28	chr11:10004600-10027600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:10004800-10021800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:10004800-10023000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:10004800-10023800	Weak transcription	HUVEC	blood vessel
32	chr11:10004800-10023800	Weak transcription	Osteobl	bone
33	chr11:10004800-10024800	Weak transcription	HSMM	muscle
34	chr11:10005000-10024000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:10005200-10012000	Weak transcription	Brain Substantia Nigra	brain
36	chr11:10005200-10012000	Weak transcription	Lung	lung
37	chr11:10005200-10017600	Weak transcription	HMEC	breast
38	chr11:10005200-10021400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:10005200-10021400	Weak transcription	Placenta	Placenta
40	chr11:10005200-10024000	Weak transcription	Hela-S3	cervix
41	chr11:10005200-10026400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:10005200-10027600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:10005400-10013200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:10005400-10017200	Weak transcription	Fetal Intestine Small	intestine
45	chr11:10005400-10022800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:10005400-10024400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:10005400-10026400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:10005400-10026400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:10005400-10027200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:10005400-10027400	Weak transcription	Fetal Stomach	stomach

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