Variant report

Variant	rs11231261
Chromosome Location	chr11:62642325-62642326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62634334..62636050-chr11:62639931..62642628,2	K562	blood:
2	chr11:62614063..62631836-chr11:62641578..62658963,131	K562	blood:
3	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
4	chr11:62571248..62574374-chr11:62641736..62645650,4	K562	blood:
5	chr11:62558497..62560960-chr11:62641552..62643701,2	K562	blood:
6	chr11:62596557..62612020-chr11:62639561..62665043,131	K562	blood:

Variant related genes	Relation type
ENSG00000256690	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000168569	Chromatin interaction
ENSG00000162231	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12270342	0.89[AFR][1000 genomes]
rs12290152	0.89[AFR][1000 genomes]
rs12295516	0.91[AFR][1000 genomes]
rs56994557	0.86[AFR][1000 genomes]
rs73487820	0.86[AFR][1000 genomes]
rs73487823	0.86[AFR][1000 genomes]
rs73487824	0.89[AFR][1000 genomes]
rs73487852	0.89[AFR][1000 genomes]
rs73487868	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
4	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
5	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
6	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62624200-62646800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:62624400-62646800	Weak transcription	Osteobl	bone
3	chr11:62624600-62645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:62625000-62646800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:62625400-62644800	Weak transcription	Thymus	Thymus
6	chr11:62625400-62646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:62625600-62646400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:62625800-62646800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:62627600-62643600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:62629000-62646600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:62629800-62644800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:62630200-62642400	Weak transcription	Placenta	Placenta
13	chr11:62630200-62646800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:62630200-62646800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:62630200-62647000	Weak transcription	HUVEC	blood vessel
16	chr11:62630400-62647000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:62630400-62647000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:62630800-62647200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:62630800-62648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:62631000-62646000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr11:62631400-62643400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:62631400-62643400	Weak transcription	GM12878-XiMat	blood
23	chr11:62631400-62646800	Weak transcription	HSMM	muscle
24	chr11:62631600-62644200	Weak transcription	NHEK	skin
25	chr11:62631600-62644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:62631600-62645000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:62631600-62646400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:62631600-62646800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:62631600-62647000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:62631600-62648200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:62631800-62643400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:62633400-62646400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:62636800-62647000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:62637200-62646400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:62637600-62645800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:62637600-62647200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:62637800-62647000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:62638000-62646000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:62638000-62646800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:62638400-62647400	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr11:62638600-62646800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:62639600-62642600	Strong transcription	HepG2	liver
43	chr11:62639600-62645800	Strong transcription	Dnd41	blood
44	chr11:62639600-62647000	Strong transcription	Hela-S3	cervix
45	chr11:62639800-62643800	Strong transcription	A549	lung
46	chr11:62640200-62646600	Weak transcription	HMEC	breast
47	chr11:62640200-62646800	Weak transcription	Fetal Intestine Large	intestine
48	chr11:62640400-62642400	Strong transcription	Fetal Thymus	thymus
49	chr11:62640400-62643400	Weak transcription	Fetal Brain Female	brain
50	chr11:62640400-62646800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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