Variant report

Variant	rs73496883
Chromosome Location	chr11:77179560-77179561
allele	C/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	CTCF	chr11:77179540-77179690	RPTEC	kidney:	n/a	n/a
2	CTCF	chr11:77179500-77179650	HRE	kidney:	n/a	n/a
3	CTCF	chr11:77179480-77179630	BJ	skin:	n/a	n/a
4	CTCF	chr11:77179560-77179710	MCF-7	breast:	n/a	n/a
5	CTCF	chr11:77179480-77179630	HMF	breast:	n/a	n/a
6	CTCF	chr11:77179540-77179690	BE2_C	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77177499..77180436-chr11:77182683..77185678,3	K562	blood:

Variant related genes	Relation type
ENSG00000268635	TF binding region
ENSG00000149269	Chromatin interaction
ENSG00000268635	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56731074	0.96[AFR][1000 genomes]
rs57692537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60843504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102973	0.83[AFR][1000 genomes]
rs7110378	0.83[AFR][1000 genomes]
rs73494597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496889	0.87[AMR][1000 genomes]
rs73501406	0.83[AFR][1000 genomes]
rs73501407	0.83[AFR][1000 genomes]
rs73501414	0.83[AFR][1000 genomes]
rs73501423	0.83[AFR][1000 genomes]
rs73501430	0.83[AFR][1000 genomes]
rs73501440	0.83[AFR][1000 genomes]
rs73501471	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77155400-77181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:77167800-77182000	Weak transcription	Fetal Kidney	kidney
3	chr11:77168800-77179600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:77169000-77181400	Weak transcription	Brain Angular Gyrus	brain
5	chr11:77171200-77181600	Weak transcription	Primary B cells from cord blood	blood
6	chr11:77173800-77183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:77174600-77180400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:77175400-77181400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:77177200-77180200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:77177800-77180000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:77177800-77180200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:77177800-77180400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:77178000-77180000	Enhancers	Stomach Mucosa	stomach
14	chr11:77178000-77180400	Enhancers	Small Intestine	intestine
15	chr11:77178000-77181400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr11:77178200-77179800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:77178200-77180000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr11:77178200-77180600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:77178200-77181000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:77178200-77181200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:77178200-77181200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:77178200-77181400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:77178200-77181400	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:77178200-77181400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr11:77178200-77182800	Enhancers	Fetal Intestine Large	intestine
26	chr11:77178400-77181400	Weak transcription	Colonic Mucosa	Colon
27	chr11:77178400-77182000	Weak transcription	Fetal Brain Male	brain
28	chr11:77178400-77182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:77178400-77183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:77178400-77183400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:77178800-77179600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:77178800-77179600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:77178800-77179800	Enhancers	Brain Substantia Nigra	brain
34	chr11:77178800-77182600	Enhancers	Fetal Intestine Small	intestine
35	chr11:77179000-77179600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr11:77179000-77179600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:77179000-77179800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr11:77179200-77180600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:77179200-77182400	Weak transcription	Psoas Muscle	Psoas
40	chr11:77179200-77182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:77179400-77179600	Flanking Active TSS	GM12878-XiMat	blood
42	chr11:77179400-77179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:77179400-77180200	Enhancers	Liver	Liver
44	chr11:77179400-77181400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:77179400-77181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:77179400-77182400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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