Variant report

Variant	rs59308438
Chromosome Location	chr11:72430368-72430369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72422011..72424823-chr11:72430319..72431907,2	MCF-7	breast:
2	chr11:72429291..72431347-chr11:72435489..72438206,2	K562	blood:
3	chr11:72430307..72432258-chr11:72433856..72435880,2	MCF-7	breast:
4	chr11:72428398..72430412-chr11:72523646..72525946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186635	Chromatin interaction
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57712040	0.86[AFR][1000 genomes]
rs58196942	1.00[AFR][1000 genomes]
rs58756839	0.92[AFR][1000 genomes]
rs59700555	0.92[AFR][1000 genomes]
rs60057195	0.96[AFR][1000 genomes]
rs60405249	0.86[AFR][1000 genomes]
rs61083756	0.80[AFR][1000 genomes]
rs61661445	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases
5	nsv555408	chr11:72405223-72441431	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv468636	chr11:72405868-72431679	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv555410	chr11:72405868-72431679	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72409000-72432600	Strong transcription	HepG2	liver
2	chr11:72413800-72430600	Weak transcription	Small Intestine	intestine
3	chr11:72418000-72434800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:72418000-72441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:72418800-72432000	Weak transcription	A549	lung
6	chr11:72419000-72433200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:72419400-72431800	Weak transcription	Fetal Kidney	kidney
8	chr11:72420800-72430400	Weak transcription	HUVEC	blood vessel
9	chr11:72422400-72433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:72422600-72430400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:72422800-72430400	Weak transcription	HSMM	muscle
12	chr11:72423000-72430800	Genic enhancers	Fetal Muscle Leg	muscle
13	chr11:72423200-72432200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:72423800-72430400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:72424000-72431400	Weak transcription	NH-A	brain
16	chr11:72424200-72430400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:72424200-72430400	Weak transcription	Osteobl	bone
18	chr11:72424200-72431600	Weak transcription	NHDF-Ad	bronchial
19	chr11:72424200-72433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:72424600-72431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:72424600-72441200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:72425200-72430400	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr11:72425200-72431200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:72425400-72431800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:72425600-72430400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:72426000-72431800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:72426400-72432800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:72426600-72430400	Weak transcription	HMEC	breast
29	chr11:72427000-72430400	Enhancers	Fetal Heart	heart
30	chr11:72427200-72431200	Enhancers	Left Ventricle	heart
31	chr11:72427400-72430400	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:72427400-72430400	Genic enhancers	Fetal Thymus	thymus
33	chr11:72427400-72430600	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr11:72427600-72430600	Strong transcription	Thymus	Thymus
35	chr11:72427600-72430800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:72427600-72431200	Genic enhancers	Brain Substantia Nigra	brain
37	chr11:72427800-72430400	Genic enhancers	Brain Cingulate Gyrus	brain
38	chr11:72427800-72430600	Strong transcription	NHEK	skin
39	chr11:72427800-72431200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:72427800-72431400	Genic enhancers	Spleen	Spleen
41	chr11:72428200-72431000	Weak transcription	Brain Angular Gyrus	brain
42	chr11:72428200-72432400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:72428200-72432800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:72428400-72430400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:72428400-72430400	Strong transcription	Fetal Intestine Small	intestine
46	chr11:72428400-72431000	Strong transcription	K562	blood
47	chr11:72428400-72431600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:72428600-72431200	Genic enhancers	Esophagus	oesophagus
49	chr11:72428600-72431400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:72428800-72430400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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