Variant report

Variant	rs11539793
Chromosome Location	chr1:10683139-10683140
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10682455..10684022-chr1:10686446..10688809,2	K562	blood:
2	chr1:10678742..10684022-chr1:10686327..10690416,7	K562	blood:
3	chr1:10676368..10678756-chr1:10680351..10683314,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243267	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11799743	1.00[MEX][hapmap]
rs7520077	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010424	chr1:10667559-10747891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv464394	chr1:10673094-10767902	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv545396	chr1:10673094-10767902	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1828181	chr1:10673130-10829937	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv464505	chr1:10673194-10767785	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv545397	chr1:10673194-10767785	Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv464616	chr1:10673194-10767902	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv545398	chr1:10673194-10767902	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv464727	chr1:10673194-10777260	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv545399	chr1:10673194-10777260	Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1003427	chr1:10675978-10727284	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1010420	chr1:10675978-10747891	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1004063	chr1:10675978-10780682	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1014003	chr1:10675978-10788624	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1014818	chr1:10675978-10846823	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
18	esv29966	chr1:10676800-10874152	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv828030	chr1:10677562-10795161	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:10644200-10683400	Weak transcription	K562	blood
3	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:10653600-10688600	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:10654800-10691600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:10656800-10687200	Weak transcription	Small Intestine	intestine
7	chr1:10657600-10683200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:10657800-10683600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:10657800-10684200	Weak transcription	Colonic Mucosa	Colon
10	chr1:10658200-10694400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:10658400-10688600	Weak transcription	Fetal Lung	lung
12	chr1:10658400-10691600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:10659200-10687800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:10659400-10684400	Weak transcription	Dnd41	blood
15	chr1:10659600-10683800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:10659800-10690800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:10660000-10683600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:10660000-10684200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:10660200-10684400	Weak transcription	NHLF	lung
20	chr1:10660200-10697600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:10660400-10683800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:10661800-10692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:10662200-10694400	Weak transcription	HSMM	muscle
24	chr1:10662400-10694400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:10664400-10698000	Weak transcription	Primary B cells from cord blood	blood
26	chr1:10666600-10683600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:10669800-10686600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:10671800-10683200	Weak transcription	Osteobl	bone
29	chr1:10672600-10694800	Strong transcription	Fetal Intestine Small	intestine
30	chr1:10673000-10688400	Weak transcription	Fetal Heart	heart
31	chr1:10673200-10688800	Weak transcription	Psoas Muscle	Psoas
32	chr1:10673600-10684000	Weak transcription	HepG2	liver
33	chr1:10673600-10688600	Weak transcription	Right Atrium	heart
34	chr1:10675600-10684600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:10675600-10690200	Weak transcription	GM12878-XiMat	blood
36	chr1:10676000-10683200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:10676000-10683800	Weak transcription	Brain Substantia Nigra	brain
38	chr1:10676000-10691600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:10676200-10683600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:10676200-10684200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:10676200-10684400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:10676200-10684400	Weak transcription	Brain Angular Gyrus	brain
43	chr1:10676200-10691600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:10676400-10683600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:10676400-10690600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:10676400-10691800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:10676400-10691800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:10676600-10691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:10676800-10683400	Weak transcription	Brain Germinal Matrix	brain
50	chr1:10676800-10691000	Weak transcription	H1 Cell Line	embryonic stem cell

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