Variant report

Variant	rs602391
Chromosome Location	chr11:85709348-85709349
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85706920..85709532-chr11:85710356..85714188,3	K562	blood:
2	chr11:85708264..85711014-chr11:85715226..85717341,2	MCF-7	breast:
3	chr11:85707326..85709532-chr11:85711313..85714188,2	K562	blood:
4	chr11:85705296..85706834-chr11:85708464..85710286,2	K562	blood:
5	chr11:85704658..85706834-chr11:85708165..85710507,4	K562	blood:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1996108	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2077815	0.85[ASN][1000 genomes]
rs2155051	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2458496	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2458499	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2508688	0.90[ASN][1000 genomes]
rs472618	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs488134	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs494369	0.81[ASN][1000 genomes]
rs504129	0.82[ASN][1000 genomes]
rs527162	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs528109	0.90[ASN][1000 genomes]
rs540422	0.87[ASN][1000 genomes]
rs542167	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs547767	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs548121	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs564658	0.87[ASN][1000 genomes]
rs585820	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs588076	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs588380	0.88[ASN][1000 genomes]
rs592297	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs592314	0.86[ASN][1000 genomes]
rs595972	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs600258	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs600743	0.89[ASN][1000 genomes]
rs601185	0.88[ASN][1000 genomes]
rs603615	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs616555	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs617836	0.87[ASN][1000 genomes]
rs618629	0.88[ASN][1000 genomes]
rs618679	0.85[ASN][1000 genomes]
rs622220	0.87[ASN][1000 genomes]
rs626542	0.83[ASN][1000 genomes]
rs627818	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs637304	0.90[ASN][1000 genomes]
rs648270	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs654194	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs655641	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs659801	0.81[ASN][1000 genomes]
rs664050	0.89[ASN][1000 genomes]
rs670606	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs680119	0.90[ASN][1000 genomes]
rs682366	0.90[ASN][1000 genomes]
rs7951988	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv468769	chr11:85683554-85757589	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv555641	chr11:85683554-85757589	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv469975	chr11:85688209-85729372	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv468770	chr11:85688209-85751883	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv555642	chr11:85688209-85751883	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv468771	chr11:85688209-85757589	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv468773	chr11:85688209-85757589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv555643	chr11:85688209-85757589	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85659400-85745800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85663800-85740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:85664400-85726800	Strong transcription	Liver	Liver
4	chr11:85664400-85729000	Strong transcription	Placenta	Placenta
5	chr11:85664600-85730800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:85664800-85733000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:85665200-85742600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:85665200-85743000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:85665800-85711400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:85666000-85735800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:85667800-85712000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:85670000-85715800	Weak transcription	Colonic Mucosa	Colon
13	chr11:85671800-85710600	Weak transcription	Psoas Muscle	Psoas
14	chr11:85674200-85715400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:85675000-85742600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr11:85677800-85709600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:85680600-85731600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:85680800-85714400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:85680800-85725600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:85681000-85725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:85681000-85729400	Strong transcription	NH-A	brain
22	chr11:85689200-85710600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:85692600-85711000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:85693200-85709600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:85695200-85725200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:85695200-85725200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:85695800-85712000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:85696200-85722800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:85696400-85712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:85696600-85711600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:85696600-85729000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:85697000-85719400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:85697400-85733400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr11:85697600-85719400	Strong transcription	HSMM	muscle
35	chr11:85697800-85712000	Strong transcription	Adipose Nuclei	Adipose
36	chr11:85697800-85726400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:85697800-85742600	Strong transcription	HUVEC	blood vessel
38	chr11:85698800-85718000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:85699600-85719600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:85699600-85727400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:85700200-85709400	Weak transcription	Ovary	ovary
42	chr11:85700400-85729400	Strong transcription	Osteobl	bone
43	chr11:85700600-85711800	Weak transcription	Fetal Heart	heart
44	chr11:85700600-85731600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:85700600-85742400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:85701000-85745000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:85701400-85710600	Weak transcription	Brain Angular Gyrus	brain
48	chr11:85702000-85732000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:85702000-85732000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:85702600-85725600	Strong transcription	Duodenum Mucosa	Duodenum

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