Variant report

Variant	rs7944693
Chromosome Location	chr11:63861205-63861206
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63861047..63863678-chr11:63899191..63900819,2	MCF-7	breast:
2	chr11:63826195..63827757-chr11:63859090..63861275,2	K562	blood:
3	chr11:63580127..63582470-chr11:63859910..63862876,2	K562	blood:
4	chr11:63859816..63862484-chr11:63904603..63906988,2	K562	blood:
5	chr11:63859958..63862104-chr11:63864993..63867532,2	K562	blood:

Variant related genes	Relation type
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56286917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884706	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884707	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926637	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv897651	chr11:63761169-63863405	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS 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	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

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	chr11:63852200-63863400	Weak transcription	Right Atrium	heart
4	chr11:63853000-63869000	Enhancers	Brain Hippocampus Middle	brain
5	chr11:63853000-63871200	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:63853000-63871600	Enhancers	Brain Substantia Nigra	brain
7	chr11:63853400-63871200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:63853600-63864400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:63853600-63870800	Enhancers	Brain Angular Gyrus	brain
10	chr11:63854600-63864400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:63854600-63868400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:63854800-63862400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:63855400-63864800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:63856400-63871400	Enhancers	Brain Anterior Caudate	brain
15	chr11:63856800-63863000	Weak transcription	Spleen	Spleen
16	chr11:63856800-63864000	Enhancers	Adipose Nuclei	Adipose
17	chr11:63857200-63861400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:63857400-63862000	Enhancers	Stomach Smooth Muscle	stomach
19	chr11:63857400-63862800	Weak transcription	Colonic Mucosa	Colon
20	chr11:63857400-63864000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:63857400-63864800	Enhancers	Fetal Muscle Leg	muscle
22	chr11:63857400-63866800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:63857600-63861400	Enhancers	Liver	Liver
24	chr11:63857600-63862200	Weak transcription	HSMMtube	muscle
25	chr11:63857800-63862600	Weak transcription	Fetal Kidney	kidney
26	chr11:63857800-63863400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:63858000-63864000	Enhancers	Placenta	Placenta
28	chr11:63858200-63862200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:63858200-63862200	Weak transcription	Lung	lung
30	chr11:63858200-63863000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:63858800-63861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:63858800-63862000	Weak transcription	Fetal Thymus	thymus
33	chr11:63858800-63862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:63858800-63862200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:63859000-63863000	Weak transcription	Fetal Heart	heart
36	chr11:63859200-63862000	Enhancers	A549	lung
37	chr11:63859200-63862000	Weak transcription	HMEC	breast
38	chr11:63859200-63866200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:63859400-63861400	Weak transcription	Fetal Lung	lung
40	chr11:63859400-63862200	Enhancers	HepG2	liver
41	chr11:63859400-63864600	Enhancers	Brain Germinal Matrix	brain
42	chr11:63859600-63862000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:63860000-63861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:63860200-63861400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:63860200-63861600	Weak transcription	Esophagus	oesophagus
46	chr11:63860200-63862000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:63860200-63862000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:63860200-63863000	Weak transcription	Right Ventricle	heart
49	chr11:63860200-63867000	Enhancers	Colon Smooth Muscle	Colon
50	chr11:63860400-63862000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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