Variant report

Variant	rs72852783
Chromosome Location	chr11:8972368-8972369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8966497..8969400-chr11:8970915..8973574,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1025438	0.82[EUR][1000 genomes]
rs72851596	0.87[EUR][1000 genomes]
rs72852790	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72853712	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers 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 target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:8945800-8974000	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:8947000-8977000	Weak transcription	Aorta	Aorta
4	chr11:8951200-8974400	Weak transcription	HepG2	liver
5	chr11:8952600-8975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:8955200-8976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:8957000-8974200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:8957000-8980800	Weak transcription	Fetal Heart	heart
10	chr11:8957200-8973400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:8959000-8974000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:8963200-8985000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:8965800-8984800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:8966000-8974000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:8966400-8984000	Weak transcription	Fetal Brain Male	brain
16	chr11:8966800-8977000	Weak transcription	Esophagus	oesophagus
17	chr11:8966800-8980800	Weak transcription	Small Intestine	intestine
18	chr11:8967400-8975800	Weak transcription	Brain Germinal Matrix	brain
19	chr11:8968000-8973000	Strong transcription	HSMM	muscle
20	chr11:8968000-8978200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:8968000-8978400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:8968200-8980800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:8968200-8985000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:8968400-8978600	Strong transcription	Liver	Liver
25	chr11:8968400-8979000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:8968400-8979200	Strong transcription	Primary B cells from cord blood	blood
27	chr11:8968600-8976200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:8968600-8977800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:8968600-8978000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:8968600-8978000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:8968600-8978800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:8968600-8978800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:8968600-8979400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:8968600-8981000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:8968800-8972400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:8968800-8972400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:8968800-8973000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:8968800-8976200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:8968800-8978000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:8968800-8978000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:8968800-8978000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:8968800-8978400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:8968800-8978400	Strong transcription	Fetal Intestine Large	intestine
44	chr11:8968800-8978600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:8968800-8978600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:8968800-8978600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:8968800-8978600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:8968800-8978800	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:8968800-8978800	Strong transcription	Placenta	Placenta
50	chr11:8968800-8978800	Strong transcription	Left Ventricle	heart

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