Variant report

Variant	rs2853088
Chromosome Location	chr11:77130092-77130093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76954546..76956343-chr11:77129983..77132787,2	K562	blood:
2	chr11:77121279..77124216-chr11:77128750..77132079,3	MCF-7	breast:
3	chr11:77011163..77013583-chr11:77127822..77130720,2	K562	blood:
4	chr11:77123513..77125266-chr11:77129067..77130720,2	K562	blood:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction
ENSG00000178795	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10899376	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899378	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899379	0.94[EUR][1000 genomes]
rs11237173	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11237189	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11237193	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11237195	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11237196	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11237199	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12271542	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1377470	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1377471	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1453343	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135625	0.91[ASN][1000 genomes]
rs1840151	0.96[EUR][1000 genomes]
rs2250639	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2250647	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2298793	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602458	0.96[EUR][1000 genomes]
rs2602459	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602463	0.84[EUR][1000 genomes]
rs2602464	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602465	0.93[EUR][1000 genomes]
rs2602468	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602469	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602470	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602472	0.92[EUR][1000 genomes]
rs2602477	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602479	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602488	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602489	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2725810	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725815	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2725816	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2725826	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2725827	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725830	0.96[EUR][1000 genomes]
rs2725831	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2725832	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2729747	0.92[EUR][1000 genomes]
rs2729753	0.80[EUR][1000 genomes]
rs2729762	0.86[EUR][1000 genomes]
rs2729764	0.82[ASN][1000 genomes]
rs2729769	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2729771	0.84[EUR][1000 genomes]
rs2844328	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844332	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844333	0.86[EUR][1000 genomes]
rs2844334	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844336	0.86[EUR][1000 genomes]
rs2844337	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2852384	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2852385	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2852392	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2852394	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2853086	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853087	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2853090	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2853103	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018424	0.85[ASN][1000 genomes]
rs4590893	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7109645	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7119033	0.95[EUR][1000 genomes]
rs7943778	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77123000-77131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:77123400-77131600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:77123400-77147000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:77123400-77147200	Weak transcription	Pancreas	Pancrea
5	chr11:77123600-77132600	Weak transcription	Stomach Mucosa	stomach
6	chr11:77123600-77135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:77123600-77135800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:77124000-77131000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:77124000-77135000	Weak transcription	Brain Anterior Caudate	brain
10	chr11:77124200-77147000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:77124600-77133400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:77125200-77131200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:77128400-77132400	Enhancers	Fetal Intestine Large	intestine
14	chr11:77128800-77132400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:77129000-77130800	Enhancers	Fetal Intestine Small	intestine
16	chr11:77129200-77130200	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:77129200-77130200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:77129200-77130400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:77129200-77130400	Flanking Active TSS	GM12878-XiMat	blood
20	chr11:77129200-77130400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:77129200-77133000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:77129400-77130200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:77129400-77130200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:77129400-77130200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr11:77129400-77130200	Enhancers	Primary B cells from cord blood	blood
26	chr11:77129400-77130200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:77129400-77130400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:77129400-77130600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:77129400-77133000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:77129400-77133000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:77129400-77133000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:77129400-77133400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:77129600-77130200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:77129600-77130600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr11:77129800-77130200	Enhancers	Fetal Kidney	kidney
36	chr11:77129800-77130400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:77129800-77131400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:77130000-77130200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr11:77130000-77130400	Enhancers	Adipose Nuclei	Adipose
40	chr11:77130000-77130600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr11:77130000-77131200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:77130000-77133200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:77130000-77139000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:77130000-77147000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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