Variant report

Variant	rs72979230
Chromosome Location	chr11:74354146-74354147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74347978..74349799-chr11:74352597..74355012,3	MCF-7	breast:
2	chr11:74352804..74354522-chr11:74458148..74460748,2	K562	blood:

Variant related genes	Relation type
ENSG00000166439	Chromatin interaction
ENSG00000077514	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17133345	1.00[ASN][1000 genomes]
rs7128415	1.00[ASN][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	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74304600-74373800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:74304800-74357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:74304800-74361400	Weak transcription	Colonic Mucosa	Colon
4	chr11:74314000-74370200	Weak transcription	Psoas Muscle	Psoas
5	chr11:74319200-74366000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:74321600-74364800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:74322200-74357400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:74323000-74356800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:74331400-74383400	Weak transcription	Brain Substantia Nigra	brain
10	chr11:74335200-74356800	Strong transcription	Fetal Thymus	thymus
11	chr11:74335200-74357000	Strong transcription	Dnd41	blood
12	chr11:74336000-74354400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:74336200-74358200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:74336600-74354400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:74336800-74354600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:74339200-74356000	Weak transcription	Fetal Heart	heart
17	chr11:74339400-74356000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:74340000-74364200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:74343000-74354800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:74343400-74354800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr11:74344200-74363200	Strong transcription	Primary T cells from cord blood	blood
22	chr11:74344800-74363400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:74345600-74354600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:74345600-74359800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:74346200-74361000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:74346600-74358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:74346800-74354600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:74346800-74359400	Weak transcription	Esophagus	oesophagus
29	chr11:74346800-74364800	Weak transcription	Fetal Intestine Small	intestine
30	chr11:74347000-74367400	Weak transcription	Gastric	stomach
31	chr11:74347800-74355600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:74348200-74360600	Weak transcription	NHLF	lung
33	chr11:74348400-74361400	Weak transcription	HSMMtube	muscle
34	chr11:74348400-74361400	Weak transcription	Osteobl	bone
35	chr11:74348400-74364400	Strong transcription	A549	lung
36	chr11:74348600-74354200	Strong transcription	Hela-S3	cervix
37	chr11:74349400-74354200	Strong transcription	Adipose Nuclei	Adipose
38	chr11:74350000-74354600	Strong transcription	Liver	Liver
39	chr11:74350000-74354800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:74350000-74357000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:74350200-74354200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:74350800-74354400	Strong transcription	NHEK	skin
43	chr11:74350800-74360200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:74351000-74354600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:74351400-74361600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:74351800-74357800	Weak transcription	Fetal Lung	lung
47	chr11:74351800-74374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:74352200-74358000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:74352400-74358400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:74352400-74361200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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