Variant report

Variant	rs17817992
Chromosome Location	chr11:85778751-85778752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85372288..85375071-chr11:85778441..85780061,2	MCF-7	breast:
2	chr11:85777862..85782517-chr11:85902953..85907117,7	K562	blood:
3	chr11:85777613..85779619-chr11:85854927..85856671,2	K562	blood:
4	chr11:85778609..85781292-chr11:85954393..85956232,2	K562	blood:
5	chr11:85778125..85779781-chr11:85819659..85821681,2	K562	blood:
6	chr11:85776467..85780584-chr11:85902948..85906650,5	MCF-7	breast:
7	chr11:85520681..85523600-chr11:85778386..85780657,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137504	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000254699	Chromatin interaction
ENSG00000137501	Chromatin interaction
ENSG00000254502	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10501599	1.00[CHB][hapmap]
rs10501601	1.00[CHB][hapmap]
rs10501602	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234465	1.00[CHB][hapmap]
rs11234467	1.00[CHB][hapmap]
rs11821654	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12274739	1.00[CHB][hapmap]
rs12274987	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs12283410	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs12286312	1.00[CHB][hapmap]
rs12787412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12787418	0.80[AMR][1000 genomes]
rs12787556	0.80[AMR][1000 genomes]
rs12788654	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12790526	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790645	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs12791520	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12794211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12795381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12795833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12798898	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12802399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804751	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12804833	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12805520	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs1445508	1.00[CHB][hapmap]
rs17148574	1.00[CHB][hapmap]
rs17148585	1.00[CHB][hapmap]
rs17148704	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs17745024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17745409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17817402	1.00[CHB][hapmap]
rs17817444	1.00[CHB][hapmap]
rs17817600	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17817648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17817931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365806	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3213934	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs34003294	0.83[AMR][1000 genomes]
rs34223518	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34332755	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34584483	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34675784	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34700169	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34766621	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34874199	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34959028	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35206999	0.95[ASN][1000 genomes]
rs35220752	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35585561	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35866111	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35992035	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41489645	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55932210	0.80[AMR][1000 genomes]
rs56094546	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56191920	0.80[AMR][1000 genomes]
rs66494408	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66802900	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67282763	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67682051	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67719619	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7107303	0.82[CHB][hapmap]
rs7107455	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs7118279	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs71465611	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs725459	1.00[CHB][hapmap]
rs7926846	1.00[CHB][hapmap]
rs7934759	1.00[CHB][hapmap]

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	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85773600-85778800	Weak transcription	Spleen	Spleen
2	chr11:85773600-85781000	Active TSS	Right Ventricle	heart
3	chr11:85773800-85780600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr11:85773800-85780600	Active TSS	GM12878-XiMat	blood
5	chr11:85775000-85780600	Active TSS	Stomach Smooth Muscle	stomach
6	chr11:85775200-85779200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:85775600-85780800	Active TSS	Ovary	ovary
8	chr11:85775600-85781000	Active TSS	Hela-S3	cervix
9	chr11:85775800-85780600	Active TSS	HSMMtube	muscle
10	chr11:85776000-85781200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:85776200-85779200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:85776200-85780600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:85776200-85780600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:85776200-85780800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:85776200-85780800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:85776400-85779800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:85776400-85780600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:85776400-85780600	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr11:85776400-85780600	Active TSS	HMEC	breast
20	chr11:85776400-85780800	Active TSS	Right Atrium	heart
21	chr11:85776400-85781000	Active TSS	HSMM	muscle
22	chr11:85776400-85781000	Active TSS	NHLF	lung
23	chr11:85776400-85781200	Active TSS	Psoas Muscle	Psoas
24	chr11:85776600-85778800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr11:85776600-85779000	Flanking Active TSS	Dnd41	blood
26	chr11:85776600-85779200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:85776600-85780400	Active TSS	Primary T cells fromperipheralblood	blood
28	chr11:85776600-85780400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:85776600-85780400	Active TSS	Fetal Muscle Leg	muscle
30	chr11:85776600-85780800	Active TSS	Aorta	Aorta
31	chr11:85776600-85781000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:85776800-85779200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:85776800-85780600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:85776800-85780600	Active TSS	Brain Substantia Nigra	brain
35	chr11:85776800-85780600	Active TSS	Thymus	Thymus
36	chr11:85776800-85780600	Active TSS	NHEK	skin
37	chr11:85776800-85780800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:85776800-85780800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:85776800-85780800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:85776800-85781000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:85777000-85779400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:85777000-85780400	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr11:85777000-85780600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:85777000-85780600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:85777000-85780600	Active TSS	Fetal Intestine Large	intestine
46	chr11:85777000-85780600	Active TSS	Fetal Intestine Small	intestine
47	chr11:85777000-85780600	Active TSS	Placenta	Placenta
48	chr11:85777000-85780600	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:85777000-85780600	Active TSS	NH-A	brain
50	chr11:85777000-85780600	Active TSS	NHDF-Ad	bronchial

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