Variant report

Variant	rs526344
Chromosome Location	chr11:72003767-72003768
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72002104..72004244-chr11:72022221..72024319,2	MCF-7	breast:
2	chr11:72003308..72005316-chr11:72016996..72018605,2	MCF-7	breast:
3	chr11:72002678..72005236-chr11:72005421..72007553,2	K562	blood:
4	chr11:72003619..72005699-chr11:72141219..72144075,2	K562	blood:

Variant related genes	Relation type
ENSG00000162129	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3741163	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs628542	0.88[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs6592464	0.92[CEU][hapmap]
rs6592466	0.93[CEU][hapmap]
rs677685	0.86[CEU][hapmap];0.91[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71993800-72004800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:71994000-72004200	Weak transcription	HSMMtube	muscle
3	chr11:71994000-72004600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:71995600-72028000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:71996200-72003800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:71997400-72004800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:71997800-72004200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:71998000-72012200	Weak transcription	NH-A	brain
9	chr11:71999800-72005200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:72000000-72003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:72000200-72013600	Weak transcription	HUVEC	blood vessel
12	chr11:72000400-72003800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:72000400-72003800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:72000400-72008200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:72000400-72017200	Weak transcription	Fetal Brain Male	brain
16	chr11:72000600-72004000	Weak transcription	Aorta	Aorta
17	chr11:72000600-72005000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:72001000-72003800	Weak transcription	Primary B cells from cord blood	blood
19	chr11:72001000-72003800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:72001000-72039800	Weak transcription	Psoas Muscle	Psoas
21	chr11:72001200-72004000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:72001200-72005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:72001600-72004200	Weak transcription	Right Ventricle	heart
24	chr11:72001600-72005200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:72001600-72005200	Weak transcription	Hela-S3	cervix
26	chr11:72001600-72005400	Weak transcription	Fetal Intestine Large	intestine
27	chr11:72001600-72006000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:72001800-72004000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:72001800-72004000	Weak transcription	Ovary	ovary
30	chr11:72001800-72005000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:72001800-72005600	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:72001800-72010800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:72001800-72019200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:72001800-72032600	Weak transcription	A549	lung
35	chr11:72002000-72025400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:72002200-72008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:72002200-72009200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:72002200-72010800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:72002200-72012400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:72002200-72025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:72002600-72004200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:72002600-72007400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:72002600-72013000	Weak transcription	HMEC	breast
44	chr11:72002600-72024000	Weak transcription	Small Intestine	intestine
45	chr11:72002800-72004400	Weak transcription	Colonic Mucosa	Colon
46	chr11:72002800-72005200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:72002800-72006200	Weak transcription	Fetal Thymus	thymus
48	chr11:72002800-72011800	Weak transcription	Osteobl	bone
49	chr11:72002800-72012000	Weak transcription	Fetal Kidney	kidney
50	chr11:72002800-72025400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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