Variant report

Variant	rs2701542
Chromosome Location	chr11:63864693-63864694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63854748..63858551-chr11:63863184..63865147,4	K562	blood:
2	chr11:63862716..63865369-chr11:63868424..63871611,3	K562	blood:
3	chr11:63862168..63865369-chr11:63868424..63871008,4	K562	blood:
4	chr11:63862447..63864017-chr11:63864274..63865912,2	K562	blood:

Variant related genes	Relation type
ENSG00000126500	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2005261	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2845593	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2845889	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs660070	0.84[CEU][hapmap]
rs883798	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
7	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS 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	245 gene(s)	inside rSNPs	diseases
8	nsv897652	chr11:63761169-63866959	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv897653	chr11:63761169-63875456	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv897654	chr11:63772000-63875456	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
13	nsv897657	chr11:63810944-63866959	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv897658	chr11:63810944-63897759	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv897659	chr11:63813470-63907079	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
17	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
18	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	231 gene(s)	inside rSNPs	diseases
19	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63848200-63865600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:63851800-63868400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr11:63853000-63869000	Enhancers	Brain Hippocampus Middle	brain
4	chr11:63853000-63871200	Enhancers	Brain Cingulate Gyrus	brain
5	chr11:63853000-63871600	Enhancers	Brain Substantia Nigra	brain
6	chr11:63853400-63871200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:63853600-63870800	Enhancers	Brain Angular Gyrus	brain
8	chr11:63854600-63868400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:63855400-63864800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:63856400-63871400	Enhancers	Brain Anterior Caudate	brain
11	chr11:63857400-63864800	Enhancers	Fetal Muscle Leg	muscle
12	chr11:63857400-63866800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:63859200-63866200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:63860200-63867000	Enhancers	Colon Smooth Muscle	Colon
15	chr11:63861200-63866400	Enhancers	Rectal Smooth Muscle	rectum
16	chr11:63861800-63866600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:63862000-63866000	Enhancers	Fetal Brain Male	brain
18	chr11:63862000-63866600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:63862200-63864800	Enhancers	Lung	lung
20	chr11:63862200-63865000	Weak transcription	HepG2	liver
21	chr11:63862200-63865200	Enhancers	Psoas Muscle	Psoas
22	chr11:63862400-63865400	Weak transcription	Esophagus	oesophagus
23	chr11:63862400-63866000	Enhancers	Fetal Brain Female	brain
24	chr11:63863000-63865600	Enhancers	Right Ventricle	heart
25	chr11:63863200-63866800	Bivalent Enhancer	Fetal Stomach	stomach
26	chr11:63863200-63868400	Weak transcription	Ovary	ovary
27	chr11:63863400-63866000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:63863600-63873200	Weak transcription	Colonic Mucosa	Colon
29	chr11:63863800-63865200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:63863800-63865200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:63863800-63875000	Weak transcription	Spleen	Spleen
32	chr11:63863800-63876600	Weak transcription	Fetal Intestine Small	intestine
33	chr11:63864000-63865400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:63864000-63868400	Weak transcription	Adipose Nuclei	Adipose
35	chr11:63864000-63869000	Weak transcription	Fetal Lung	lung
36	chr11:63864200-63865400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr11:63864400-63864800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:63864400-63865200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:63864400-63866400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:63864600-63865400	Flanking Active TSS	Brain Germinal Matrix	brain

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