Variant report

Variant	rs57197891
Chromosome Location	chr11:68156273-68156274
allele	C/T
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	chr11:68109259..68111548-chr11:68154711..68157700,2	MCF-7	breast:
2	chr11:67804050..67806616-chr11:68155460..68157158,2	K562	blood:
3	chr11:68155804..68157733-chr11:68161892..68163614,2	MCF-7	breast:
4	chr11:68155936..68158633-chr11:68163995..68166705,2	K562	blood:
5	chr11:68142620..68145092-chr11:68154931..68156439,2	K562	blood:
6	chr11:68026135..68028005-chr11:68155503..68157577,2	MCF-7	breast:
7	chr11:68079630..68081657-chr11:68154329..68157940,3	MCF-7	breast:
8	chr11:68151217..68154169-chr11:68155729..68159223,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110719	Chromatin interaction
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10896321	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11228225	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11602256	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11823032	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12222261	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1784237	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2508838	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs314773	0.84[EUR][1000 genomes]
rs3781590	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs587808	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs628115	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs629012	0.85[EUR][1000 genomes]
rs643892	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs659605	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66787665	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671191	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72932397	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	12 gene(s)	inside rSNPs	diseases
13	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68121800-68156400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:68137000-68156400	Weak transcription	K562	blood
3	chr11:68139600-68156400	Weak transcription	Hela-S3	cervix
4	chr11:68142600-68179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:68143000-68156400	Weak transcription	NHEK	skin
6	chr11:68147400-68181600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:68148600-68165600	Weak transcription	Small Intestine	intestine
8	chr11:68148600-68196800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:68148800-68156400	Weak transcription	Fetal Kidney	kidney
10	chr11:68149000-68165200	Weak transcription	Psoas Muscle	Psoas
11	chr11:68149200-68156400	Weak transcription	HMEC	breast
12	chr11:68149200-68156600	Weak transcription	Osteobl	bone
13	chr11:68149200-68156800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:68149200-68174000	Weak transcription	Primary B cells from cord blood	blood
15	chr11:68149400-68156400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:68149400-68167000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:68149600-68156400	Weak transcription	HSMM	muscle
18	chr11:68149600-68180400	Weak transcription	NHLF	lung
19	chr11:68149800-68156600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:68150200-68157200	Weak transcription	HUVEC	blood vessel
21	chr11:68150200-68164600	Weak transcription	Right Atrium	heart
22	chr11:68150200-68166800	Weak transcription	Brain Substantia Nigra	brain
23	chr11:68151600-68156600	Weak transcription	HSMMtube	muscle
24	chr11:68151800-68165000	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:68151800-68166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:68152000-68156400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:68152000-68165000	Strong transcription	HepG2	liver
28	chr11:68152200-68156600	Weak transcription	Fetal Brain Male	brain
29	chr11:68152200-68159400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:68152200-68166000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:68152400-68156400	Weak transcription	Fetal Heart	heart
32	chr11:68152400-68163400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:68152400-68164600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:68152400-68164800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr11:68152400-68165800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:68152600-68160400	Strong transcription	Colonic Mucosa	Colon
37	chr11:68152800-68157800	Strong transcription	Dnd41	blood
38	chr11:68152800-68159400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:68152800-68159600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:68153000-68160200	Strong transcription	Gastric	stomach
41	chr11:68153000-68160400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:68153200-68160400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:68153200-68162000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:68153200-68165200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:68153400-68156600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:68153400-68157400	Strong transcription	Esophagus	oesophagus
47	chr11:68153400-68157600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:68153400-68158600	Strong transcription	Colon Smooth Muscle	Colon
49	chr11:68153400-68159600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:68153400-68160600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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