Variant report

Variant	rs60133324
Chromosome Location	chr11:47632212-47632213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47573161..47575432-chr11:47631210..47633964,2	MCF-7	breast:
2	chr11:47599509..47601986-chr11:47631255..47633336,2	K562	blood:
3	chr11:47628145..47629992-chr11:47630122..47633055,2	MCF-7	breast:
4	chr11:47625880..47627610-chr11:47631920..47634659,2	K562	blood:
5	chr11:47630993..47632614-chr11:47658904..47660904,2	MCF-7	breast:
6	chr11:47625710..47627610-chr11:47631775..47635151,4	K562	blood:
7	chr11:47628108..47630703-chr11:47631634..47634626,3	K562	blood:
8	chr11:47631158..47632846-chr11:47873541..47876421,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000109919	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10838721	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11039256	1.00[AFR][1000 genomes]
rs11039306	1.00[AFR][1000 genomes]
rs11039339	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11039413	1.00[AFR][1000 genomes]
rs12221935	1.00[AFR][1000 genomes]
rs12225433	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12422023	0.85[AMR][1000 genomes]
rs2904128	1.00[AFR][1000 genomes]
rs7109918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7130107	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47607000-47632800	Weak transcription	Dnd41	blood
2	chr11:47616600-47632400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:47616600-47632600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:47617600-47643200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:47617800-47632400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:47618000-47639200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:47620800-47637800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:47621000-47640400	Weak transcription	Fetal Brain Female	brain
9	chr11:47621600-47632400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:47621600-47638200	Weak transcription	Hela-S3	cervix
11	chr11:47621600-47647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:47621800-47642000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:47622000-47636000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:47622000-47637600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:47623000-47632800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:47623800-47632400	Weak transcription	Gastric	stomach
17	chr11:47624200-47632600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:47624400-47632400	Weak transcription	Fetal Thymus	thymus
19	chr11:47625200-47632600	Weak transcription	Primary B cells from cord blood	blood
20	chr11:47625200-47637800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:47626000-47632800	Weak transcription	Psoas Muscle	Psoas
22	chr11:47626000-47638400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:47626200-47638400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:47626400-47639200	Weak transcription	Colonic Mucosa	Colon
25	chr11:47626600-47635000	Weak transcription	A549	lung
26	chr11:47626600-47639000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:47627800-47643200	Weak transcription	Pancreas	Pancrea
28	chr11:47628600-47632400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:47628600-47638400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:47628600-47638600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:47628800-47642000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:47629000-47632600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:47629200-47632600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:47629200-47638000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:47629400-47632400	Weak transcription	Ovary	ovary
36	chr11:47629400-47638400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:47629400-47639600	Weak transcription	HMEC	breast
38	chr11:47629600-47632400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:47629800-47634800	Weak transcription	Brain Anterior Caudate	brain
40	chr11:47629800-47636600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:47629800-47637800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:47629800-47638600	Weak transcription	Brain Angular Gyrus	brain
43	chr11:47629800-47640800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:47629800-47642400	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:47630000-47634800	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:47630000-47634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:47630000-47638400	Weak transcription	Thymus	Thymus
48	chr11:47630000-47638400	Weak transcription	Osteobl	bone
49	chr11:47630000-47639000	Weak transcription	NHLF	lung
50	chr11:47630000-47639800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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