Variant report

Variant	rs55886955
Chromosome Location	chr11:67849638-67849639
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	POLR2A	chr11:67849446-67849947	K562	blood:	n/a	n/a
2	POLR2A	chr11:67848049-67850715	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67847639..67850229-chr11:67855565..67857358,2	MCF-7	breast:
2	chr11:67849310..67851395-chr11:67980101..67982458,2	MCF-7	breast:

Variant related genes	Relation type
CHKA	TF binding region
ENSG00000110721	Chromatin interaction
ENSG00000110066	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11825872	1.00[AMR][1000 genomes]
rs17148849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56408531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56907094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61329983	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505268	1.00[AFR][1000 genomes];1.00[AMR][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	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
5	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription 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	73 gene(s)	inside rSNPs	diseases
7	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67812200-67875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67815000-67851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:67819800-67850600	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:67820000-67850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:67822000-67851600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:67823600-67850600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr11:67829800-67850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:67831400-67884400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:67831600-67867000	Weak transcription	Small Intestine	intestine
10	chr11:67833800-67858200	Weak transcription	HUVEC	blood vessel
11	chr11:67835400-67851200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:67836600-67852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:67838000-67867000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:67838000-67879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:67838400-67858200	Weak transcription	NH-A	brain
16	chr11:67838600-67864400	Weak transcription	Osteobl	bone
17	chr11:67838800-67852400	Weak transcription	NHDF-Ad	bronchial
18	chr11:67839200-67850400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:67839200-67870600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:67839400-67850000	Weak transcription	NHLF	lung
21	chr11:67839800-67849800	Weak transcription	Fetal Kidney	kidney
22	chr11:67839800-67873200	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:67839800-67886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:67841600-67850000	Weak transcription	Fetal Lung	lung
25	chr11:67841600-67850400	Weak transcription	Psoas Muscle	Psoas
26	chr11:67842400-67849800	Strong transcription	Fetal Intestine Small	intestine
27	chr11:67842400-67858200	Weak transcription	Fetal Thymus	thymus
28	chr11:67842400-67859000	Weak transcription	HSMMtube	muscle
29	chr11:67842400-67867000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:67843800-67851400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:67845600-67851000	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:67845600-67857200	Weak transcription	A549	lung
33	chr11:67846000-67850000	Weak transcription	Stomach Mucosa	stomach
34	chr11:67846000-67850400	Weak transcription	Right Atrium	heart
35	chr11:67846000-67858200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:67846200-67857600	Weak transcription	Fetal Heart	heart
37	chr11:67846200-67867000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:67846400-67856800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:67846600-67851400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:67847200-67849800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:67847200-67850600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:67847200-67851400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:67847200-67851400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:67847200-67851400	Strong transcription	HepG2	liver
45	chr11:67847400-67851400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:67847400-67851400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:67847800-67850200	Strong transcription	Primary B cells from cord blood	blood
48	chr11:67848400-67886400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:67848600-67850200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:67848600-67850200	Enhancers	HMEC	breast

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