Variant report

Variant	rs58196942
Chromosome Location	chr11:72425746-72425747
allele	A/C/G
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	chr11:72425661-72425948	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72424924..72427618-chr11:73086077..73088871,2	MCF-7	breast:
2	chr11:72417967..72420999-chr11:72422416..72425990,4	K562	blood:
3	chr11:72422674..72429269-chr11:72431829..72438308,7	K562	blood:
4	chr11:72415563..72419508-chr11:72423771..72425994,3	K562	blood:

Variant related genes	Relation type
ARAP1	TF binding region
ENSG00000054967	Chromatin interaction
ENSG00000244134	Chromatin interaction
ENSG00000186635	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]
rs58756839	0.92[AFR][1000 genomes]
rs59308438	1.00[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	chr11:72394000-72426800	Strong transcription	Thymus	Thymus
2	chr11:72394200-72425800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:72394200-72429000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:72394600-72428800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:72394600-72429400	Strong transcription	Primary T cells from cord blood	blood
6	chr11:72394600-72430200	Strong transcription	Dnd41	blood
7	chr11:72395000-72429800	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:72395200-72429000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:72396000-72426000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:72397800-72426000	Strong transcription	Fetal Thymus	thymus
11	chr11:72398600-72426000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:72405000-72429600	Weak transcription	Psoas Muscle	Psoas
13	chr11:72406400-72426200	Strong transcription	Pancreas	Pancrea
14	chr11:72409000-72432600	Strong transcription	HepG2	liver
15	chr11:72413600-72426600	Strong transcription	GM12878-XiMat	blood
16	chr11:72413800-72430600	Weak transcription	Small Intestine	intestine
17	chr11:72415000-72426200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:72416400-72426200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:72416400-72429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:72416600-72426200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:72418000-72428400	Weak transcription	K562	blood
22	chr11:72418000-72434800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:72418000-72441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:72418800-72432000	Weak transcription	A549	lung
25	chr11:72419000-72433200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:72419400-72431800	Weak transcription	Fetal Kidney	kidney
27	chr11:72420800-72429800	Weak transcription	Hela-S3	cervix
28	chr11:72420800-72430400	Weak transcription	HUVEC	blood vessel
29	chr11:72421000-72426600	Enhancers	Fetal Heart	heart
30	chr11:72422200-72426000	Weak transcription	HMEC	breast
31	chr11:72422400-72426200	Weak transcription	HSMMtube	muscle
32	chr11:72422400-72429800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:72422400-72433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:72422600-72427800	Weak transcription	Aorta	Aorta
35	chr11:72422600-72429800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:72422600-72430400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:72422800-72425800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:72422800-72427600	Weak transcription	Brain Angular Gyrus	brain
39	chr11:72422800-72430400	Weak transcription	HSMM	muscle
40	chr11:72423000-72425800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:72423000-72426600	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr11:72423000-72428400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:72423000-72430800	Genic enhancers	Fetal Muscle Leg	muscle
44	chr11:72423200-72426000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:72423200-72426000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:72423200-72426600	Genic enhancers	Monocytes-CD14+_RO01746	blood
47	chr11:72423200-72426800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:72423200-72427400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:72423200-72429800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:72423200-72432200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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