Variant report

Variant	rs71480230
Chromosome Location	chr11:67870451-67870452
allele	ATATA/TTTTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67868820..67870602-chr11:67873285..67875564,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10791956	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791957	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896293	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896295	0.85[EUR][1000 genomes]
rs11228129	0.81[ASN][1000 genomes]
rs11228131	0.88[ASN][1000 genomes]
rs11228133	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11228136	0.88[ASN][1000 genomes]
rs11228137	0.84[ASN][1000 genomes]
rs11228145	0.80[EUR][1000 genomes]
rs11535788	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2457179	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2457180	0.84[ASN][1000 genomes]
rs2511437	0.81[ASN][1000 genomes]
rs2511469	0.81[EUR][1000 genomes]
rs2512608	0.86[EUR][1000 genomes]
rs2512611	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2512612	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2512623	0.80[EUR][1000 genomes]
rs3935460	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4073551	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4420277	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4930227	0.81[ASN][1000 genomes]
rs4930557	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61890478	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591331	0.85[ASN][1000 genomes]
rs6591333	0.82[EUR][1000 genomes]
rs7104982	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7123183	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7123668	0.85[EUR][1000 genomes]
rs7124058	0.80[EUR][1000 genomes]
rs7925022	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7925423	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7928739	0.82[ASN][1000 genomes]
rs7940217	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940501	0.87[EUR][1000 genomes]
rs7944372	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67812200-67875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67831400-67884400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:67838000-67879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:67839200-67870600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:67839800-67873200	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:67839800-67886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:67848400-67886400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:67848800-67874200	Weak transcription	Colonic Mucosa	Colon
9	chr11:67849000-67885400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:67849400-67873800	Weak transcription	Spleen	Spleen
11	chr11:67849400-67887400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:67850400-67874000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:67850800-67875200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:67851400-67873600	Weak transcription	Fetal Stomach	stomach
15	chr11:67857600-67875000	Weak transcription	Lung	lung
16	chr11:67862400-67875000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:67862400-67877000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:67862400-67881400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:67863600-67874200	Weak transcription	Gastric	stomach
20	chr11:67864400-67883400	Weak transcription	Hela-S3	cervix
21	chr11:67864600-67873200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:67865200-67870600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:67865400-67871600	Enhancers	Liver	Liver
24	chr11:67867200-67873200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:67867200-67873600	Weak transcription	Fetal Brain Female	brain
26	chr11:67867400-67873000	Weak transcription	Small Intestine	intestine
27	chr11:67867400-67873200	Weak transcription	Right Ventricle	heart
28	chr11:67867400-67873200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:67867400-67884200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:67867400-67884400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:67867400-67885200	Weak transcription	HSMMtube	muscle
32	chr11:67867400-67885600	Weak transcription	Primary B cells from cord blood	blood
33	chr11:67867400-67886200	Weak transcription	Thymus	Thymus
34	chr11:67867600-67873000	Weak transcription	Fetal Heart	heart
35	chr11:67867600-67873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:67867600-67874800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:67867600-67881400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:67867600-67884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:67867600-67885400	Weak transcription	HSMM	muscle
40	chr11:67867800-67873200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:67867800-67873200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:67867800-67873200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:67867800-67873600	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:67867800-67881400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:67868000-67870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:67868000-67873000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:67868000-67873600	Weak transcription	Psoas Muscle	Psoas
48	chr11:67868000-67873600	Weak transcription	Right Atrium	heart
49	chr11:67868000-67875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:67868400-67872400	Weak transcription	Rectal Mucosa Donor 31	rectum

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