Variant report

Variant	rs368218749
Chromosome Location	chr11:75852091-75852092
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:75852086-75852375	GM12891	blood:	n/a	n/a
2	GATA2	chr11:75851670-75852186	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr11:75852048-75852572	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75848740..75850557-chr11:75852011..75854715,2	MCF-7	breast:
2	chr11:75849232..75850781-chr11:75850823..75853731,2	K562	blood:
3	chr11:75634439..75636281-chr11:75851410..75853874,2	MCF-7	breast:
4	chr11:75839101..75840628-chr11:75849802..75852307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255421	TF binding region
ENSG00000255421	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv394	chr11:75820547-75865777	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1049039	chr11:75827548-76023665	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1051472	chr11:75851880-75922608	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75822000-75852200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:75825800-75852800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:75826000-75862800	Weak transcription	Hela-S3	cervix
4	chr11:75832000-75861200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:75832600-75857600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:75832800-75859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:75833000-75854400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:75833000-75862800	Weak transcription	K562	blood
9	chr11:75833400-75855000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:75834400-75862800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:75838400-75852200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:75839800-75858000	Weak transcription	Pancreas	Pancrea
14	chr11:75841200-75862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:75843200-75859400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:75843400-75853800	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:75843400-75858000	Weak transcription	Right Atrium	heart
18	chr11:75843600-75853000	Weak transcription	Brain Substantia Nigra	brain
19	chr11:75843600-75862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:75843800-75852200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:75843800-75859800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:75843800-75863000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:75843800-75863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:75843800-75863000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:75844000-75861200	Weak transcription	NHEK	skin
26	chr11:75844200-75863000	Weak transcription	Brain Angular Gyrus	brain
27	chr11:75844600-75856400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:75846600-75863200	Weak transcription	Fetal Kidney	kidney
29	chr11:75846800-75852600	Weak transcription	Osteobl	bone
30	chr11:75847000-75852400	Weak transcription	HUVEC	blood vessel
31	chr11:75847000-75853800	Weak transcription	Brain Germinal Matrix	brain
32	chr11:75847000-75863400	Weak transcription	Psoas Muscle	Psoas
33	chr11:75848600-75852800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:75849400-75858000	Weak transcription	Fetal Brain Male	brain
35	chr11:75849800-75862800	Weak transcription	Esophagus	oesophagus
36	chr11:75850000-75853000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:75850400-75854600	Strong transcription	Primary B cells from cord blood	blood
38	chr11:75850400-75854800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:75850600-75855000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:75851200-75854800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:75851200-75855800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:75851200-75863400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:75851400-75852200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:75851400-75852200	Enhancers	Right Ventricle	heart
45	chr11:75851400-75853400	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr11:75851400-75854000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:75851400-75854400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:75851400-75854600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:75851400-75854600	Strong transcription	Liver	Liver
50	chr11:75851400-75854600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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