Variant report

Variant	rs634890
Chromosome Location	chr11:75237988-75237989
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:75237973-75238002	GM10248	blood:	n/a	n/a
2	POLR2A	chr11:75237892-75238366	HepG2	liver:	n/a	n/a
3	MXI1	chr11:75235871-75238000	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
2	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:
3	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
4	chr11:75237299..75240439-chr11:75240867..75243986,5	MCF-7	breast:
5	chr11:75189920..75194162-chr11:75235512..75239199,3	K562	blood:
6	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:

No data

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1557472	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1557473	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1630251	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1631039	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783552	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs590260	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs600867	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs604252	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs607775	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs614227	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs615983	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs616422	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs630776	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs633602	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs634530	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs686084	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924708	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7934513	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7949062	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7949091	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	esv3371732	chr11:75235729-75238277	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75235400-75238000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr11:75235600-75238000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:75236000-75238000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:75236000-75238200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:75236600-75238000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:75236600-75238000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:75236600-75238000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:75236600-75238000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:75236600-75238000	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr11:75236600-75238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:75236600-75239800	Weak transcription	Fetal Heart	heart
12	chr11:75236800-75238000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:75236800-75238000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:75237000-75238200	Enhancers	Fetal Brain Male	brain
15	chr11:75237200-75238000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:75237200-75238000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:75237400-75238000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:75237400-75238000	Flanking Active TSS	Fetal Brain Female	brain
19	chr11:75237400-75238000	Flanking Active TSS	Thymus	Thymus
20	chr11:75237400-75238400	Flanking Active TSS	Dnd41	blood
21	chr11:75237600-75238000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:75237600-75238000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr11:75237600-75238000	Weak transcription	Brain Angular Gyrus	brain
24	chr11:75237600-75238000	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr11:75237600-75238000	Enhancers	Placenta	Placenta
26	chr11:75237600-75243400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:75237600-75245800	Weak transcription	Right Ventricle	heart
28	chr11:75237800-75238000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:75237800-75238000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:75237800-75238000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:75237800-75238000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr11:75237800-75238000	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:75237800-75238000	Enhancers	Primary T cells from cord blood	blood
34	chr11:75237800-75238000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:75237800-75238000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:75237800-75238000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:75237800-75238000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:75237800-75238000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr11:75237800-75238000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:75237800-75238000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:75237800-75238000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:75237800-75238000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:75237800-75238000	Enhancers	Colon Smooth Muscle	Colon
44	chr11:75237800-75238000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr11:75237800-75238000	Enhancers	Fetal Intestine Large	intestine
46	chr11:75237800-75238000	Enhancers	Fetal Muscle Trunk	muscle
47	chr11:75237800-75238000	Enhancers	Fetal Thymus	thymus
48	chr11:75237800-75238000	Enhancers	Spleen	Spleen
49	chr11:75237800-75238000	Enhancers	A549	lung
50	chr11:75237800-75238000	Enhancers	K562	blood

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