Variant report

Variant	rs320108
Chromosome Location	chr11:63679369-63679370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
2	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
3	chr11:63534031..63536529-chr11:63677173..63679815,2	K562	blood:
4	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167771	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000255651	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs182664	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
10	nsv897632	chr11:63670787-63688693	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv897635	chr11:63674926-63688693	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv897636	chr11:63676067-63688693	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv897637	chr11:63676067-63691049	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
16	nsv897638	chr11:63676562-63688693	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63659600-63680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:63659800-63682400	Strong transcription	Fetal Intestine Large	intestine
3	chr11:63664600-63680400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:63669600-63683200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:63670000-63683200	Weak transcription	K562	blood
6	chr11:63670000-63683400	Weak transcription	HSMM	muscle
7	chr11:63670800-63681600	Weak transcription	GM12878-XiMat	blood
8	chr11:63671000-63681800	Weak transcription	HUVEC	blood vessel
9	chr11:63671000-63683800	Weak transcription	NHDF-Ad	bronchial
10	chr11:63672200-63682600	Weak transcription	HepG2	liver
11	chr11:63672200-63682600	Weak transcription	NH-A	brain
12	chr11:63672400-63679400	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr11:63672400-63683200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:63672400-63683800	Weak transcription	Psoas Muscle	Psoas
15	chr11:63672600-63679800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:63673200-63680400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:63673200-63682600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:63673200-63683200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:63673800-63682800	Weak transcription	Osteobl	bone
20	chr11:63675800-63680200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:63676200-63679400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:63676200-63683400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:63676400-63682800	Weak transcription	Right Atrium	heart
24	chr11:63676400-63683400	Weak transcription	Brain Substantia Nigra	brain
25	chr11:63676400-63683400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:63676600-63681200	Weak transcription	Brain Anterior Caudate	brain
27	chr11:63676600-63682600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:63676600-63682600	Weak transcription	Stomach Mucosa	stomach
29	chr11:63676600-63683400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:63676600-63683400	Weak transcription	Brain Angular Gyrus	brain
31	chr11:63676600-63684000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:63676600-63684000	Weak transcription	Aorta	Aorta
33	chr11:63676800-63682600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:63676800-63683200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:63676800-63683200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:63676800-63683200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:63676800-63683400	Weak transcription	HMEC	breast
38	chr11:63677000-63683400	Weak transcription	Hela-S3	cervix
39	chr11:63677000-63683600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:63677200-63680600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:63677400-63682600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:63677600-63682400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:63677600-63682400	Strong transcription	Fetal Intestine Small	intestine
44	chr11:63677600-63682600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:63677600-63683400	Weak transcription	Ovary	ovary
46	chr11:63677800-63680000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:63677800-63680600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:63677800-63681400	Genic enhancers	Brain Germinal Matrix	brain
49	chr11:63677800-63682600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:63677800-63682600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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