Variant report

Variant	rs12291596
Chromosome Location	chr11:62467346-62467347
allele	C/G/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	chr11:62467343-62467488	K562	blood:	n/a	n/a
2	POLR2A	chr11:62467064-62467420	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62461195..62463796-chr11:62467229..62471600,3	K562	blood:
2	chr11:62466264..62469204-chr11:62476834..62478530,2	K562	blood:
3	chr11:62377247..62379546-chr11:62466990..62468658,2	MCF-7	breast:

Variant related genes	Relation type
BSCL2	TF binding region
ENSG00000149489	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000168000	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs528616	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104235	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7107423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7113951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7115869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126157	0.92[AFR][1000 genomes]
rs7945873	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
6	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62447000-62472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:62456000-62472800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:62456000-62472800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:62456000-62472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:62457000-62472600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:62457000-62472800	Weak transcription	Small Intestine	intestine
7	chr11:62457800-62472200	Weak transcription	Fetal Heart	heart
8	chr11:62459800-62472600	Weak transcription	HUVEC	blood vessel
9	chr11:62460400-62472200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:62460400-62472800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:62460400-62473200	Weak transcription	Aorta	Aorta
12	chr11:62460600-62468400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:62460600-62468400	Weak transcription	Hela-S3	cervix
14	chr11:62460600-62472400	Weak transcription	HMEC	breast
15	chr11:62460600-62472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:62460600-62472600	Weak transcription	NHEK	skin
17	chr11:62460600-62472800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:62460600-62472800	Weak transcription	Colonic Mucosa	Colon
19	chr11:62460600-62472800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:62460600-62472800	Weak transcription	Esophagus	oesophagus
21	chr11:62460600-62472800	Weak transcription	Spleen	Spleen
22	chr11:62460600-62472800	Weak transcription	GM12878-XiMat	blood
23	chr11:62460600-62473000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:62460800-62469800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:62460800-62472400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:62460800-62472600	Weak transcription	Pancreas	Pancrea
27	chr11:62460800-62472800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:62461000-62467800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:62461000-62472600	Weak transcription	Gastric	stomach
30	chr11:62461000-62472800	Weak transcription	HepG2	liver
31	chr11:62461200-62467800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:62461200-62467800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:62461200-62468000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:62461200-62468200	Weak transcription	A549	lung
35	chr11:62461200-62468400	Weak transcription	Dnd41	blood
36	chr11:62461200-62468400	Weak transcription	HSMMtube	muscle
37	chr11:62461200-62468600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:62461200-62468600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:62461200-62469200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:62461200-62469400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr11:62461200-62469400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:62461200-62472600	Weak transcription	Primary B cells from cord blood	blood
43	chr11:62461200-62472800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:62461200-62473000	Weak transcription	Primary T cells from cord blood	blood
45	chr11:62461200-62473000	Weak transcription	Thymus	Thymus
46	chr11:62461400-62467600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:62461400-62467600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:62461400-62468600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:62461400-62469200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:62461800-62468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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