Variant report

Variant	rs71465927
Chromosome Location	chr11:74313425-74313426
allele	C/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	chr11:74313419-74313582	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74312478..74314524-chr11:74332644..74335473,2	MCF-7	breast:

Variant related genes	Relation type
POLD3	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12805108	1.00[AFR][1000 genomes]
rs67772345	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72979222	1.00[AFR][1000 genomes]
rs72983223	1.00[AFR][1000 genomes]
rs72989331	1.00[AFR][1000 genomes]
rs72991248	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
7	nsv897914	chr11:74266026-74327614	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv897915	chr11:74269817-74327614	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74304400-74316200	Weak transcription	Aorta	Aorta
2	chr11:74304400-74345600	Weak transcription	Gastric	stomach
3	chr11:74304600-74313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:74304600-74316200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:74304600-74316200	Weak transcription	Ovary	ovary
6	chr11:74304600-74316400	Weak transcription	Small Intestine	intestine
7	chr11:74304600-74323600	Weak transcription	Brain Substantia Nigra	brain
8	chr11:74304600-74323600	Weak transcription	HSMMtube	muscle
9	chr11:74304600-74323800	Weak transcription	Brain Angular Gyrus	brain
10	chr11:74304600-74331400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:74304600-74345600	Weak transcription	Esophagus	oesophagus
12	chr11:74304600-74373800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:74304800-74316200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:74304800-74316400	Weak transcription	Pancreas	Pancrea
15	chr11:74304800-74317200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:74304800-74317400	Weak transcription	HSMM	muscle
17	chr11:74304800-74323600	Weak transcription	Stomach Mucosa	stomach
18	chr11:74304800-74324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:74304800-74336200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:74304800-74357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:74304800-74361400	Weak transcription	Colonic Mucosa	Colon
22	chr11:74305000-74313800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:74305000-74315000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:74305000-74315800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:74305000-74315800	Weak transcription	NHLF	lung
26	chr11:74305000-74322200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:74305000-74323000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:74305200-74316000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:74305200-74316400	Weak transcription	NHEK	skin
30	chr11:74305200-74318200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:74305200-74323600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:74305200-74323600	Weak transcription	HUVEC	blood vessel
33	chr11:74305200-74331800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:74305400-74316200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:74305400-74316600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:74305400-74317000	Weak transcription	Fetal Heart	heart
37	chr11:74305400-74318400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:74305400-74319800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:74305400-74322600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:74305600-74313600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr11:74305600-74315600	Weak transcription	Osteobl	bone
42	chr11:74305600-74320800	Weak transcription	HepG2	liver
43	chr11:74305600-74321400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:74305600-74324800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:74305800-74314000	Strong transcription	Fetal Stomach	stomach
46	chr11:74305800-74314600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:74306400-74313600	Strong transcription	Fetal Intestine Small	intestine
48	chr11:74306400-74317800	Strong transcription	Dnd41	blood
49	chr11:74306600-74317600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:74307000-74319200	Strong transcription	Fetal Thymus	thymus

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