Variant report

Variant	rs4930227
Chromosome Location	chr11:67840160-67840161
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67838526..67842289-chr11:67845651..67847746,3	K562	blood:
2	chr11:67834025..67835744-chr11:67838222..67841118,2	MCF-7	breast:
3	chr11:67837349..67840620-chr11:67841779..67845406,4	K562	blood:
4	chr11:67837582..67841589-chr11:67842987..67847014,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10791956	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10791957	0.94[ASN][1000 genomes]
rs10896293	0.89[ASN][1000 genomes]
rs11228129	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228131	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11228133	0.89[ASN][1000 genomes]
rs11228137	0.89[ASN][1000 genomes]
rs11535788	0.89[ASN][1000 genomes]
rs11824199	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12270493	0.85[ASN][1000 genomes]
rs2457179	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2457180	0.96[ASN][1000 genomes]
rs2511437	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512608	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2512611	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2512612	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3133327	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3819255	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3935460	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4073551	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4930557	0.89[ASN][1000 genomes]
rs61890478	0.86[ASN][1000 genomes]
rs6591331	0.90[ASN][1000 genomes]
rs7104982	0.92[ASN][1000 genomes]
rs7123183	0.87[ASN][1000 genomes]
rs7123668	0.83[ASN][1000 genomes]
rs71480230	0.81[ASN][1000 genomes]
rs7925022	0.87[ASN][1000 genomes]
rs7928739	0.94[ASN][1000 genomes]
rs7940217	0.94[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	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
5	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription 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	73 gene(s)	inside rSNPs	diseases
7	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
8	nsv897855	chr11:67805563-67842369	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67808400-67841000	Weak transcription	HMEC	breast
2	chr11:67808800-67842600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:67811200-67841600	Strong transcription	Fetal Intestine Small	intestine
4	chr11:67812200-67875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:67815000-67851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:67819400-67842200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:67819600-67846200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:67819800-67850600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:67820000-67850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:67820200-67841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:67821200-67845400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:67822000-67851600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:67823600-67841800	Strong transcription	Fetal Intestine Large	intestine
14	chr11:67823600-67849400	Strong transcription	Hela-S3	cervix
15	chr11:67823600-67850600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr11:67823800-67842200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:67824000-67843200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:67824000-67844000	Strong transcription	HepG2	liver
19	chr11:67824200-67842800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:67824400-67842200	Strong transcription	Liver	Liver
21	chr11:67824400-67842800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr11:67824400-67846000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:67824600-67843600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:67824600-67846000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:67825000-67844200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:67825200-67843000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:67825200-67849600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:67825400-67842200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:67825400-67843000	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:67825400-67845800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:67825400-67846400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:67825600-67843000	Strong transcription	Dnd41	blood
33	chr11:67826600-67849400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:67827200-67842400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:67827800-67842400	Strong transcription	Fetal Stomach	stomach
36	chr11:67827800-67842800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr11:67828200-67841800	Strong transcription	Fetal Brain Female	brain
38	chr11:67828200-67842400	Strong transcription	Brain Germinal Matrix	brain
39	chr11:67828200-67842400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:67828400-67842400	Strong transcription	Fetal Thymus	thymus
41	chr11:67828600-67841800	Strong transcription	Ovary	ovary
42	chr11:67828800-67841400	Strong transcription	Pancreas	Pancrea
43	chr11:67828800-67842400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:67828800-67843000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:67829000-67841600	Strong transcription	Lung	lung
46	chr11:67829800-67848600	Weak transcription	Fetal Brain Male	brain
47	chr11:67829800-67850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:67831400-67884400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:67831600-67867000	Weak transcription	Small Intestine	intestine
50	chr11:67831800-67841800	Strong transcription	Gastric	stomach

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