Variant report

Variant	rs11904263
Chromosome Location	chr2:10569230-10569231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10566694..10569461-chr2:10570091..10572722,5	MCF-7	breast:
2	chr2:10259215..10279610-chr2:10567557..10581613,45	K562	blood:

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10170147	1.00[EUR][1000 genomes]
rs10189026	1.00[EUR][1000 genomes]
rs10203520	1.00[EUR][1000 genomes]
rs10203529	1.00[EUR][1000 genomes]
rs11897672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11903106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11904157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401475	1.00[EUR][1000 genomes]
rs16856239	1.00[EUR][1000 genomes]
rs16856397	1.00[EUR][1000 genomes]
rs28362406	1.00[EUR][1000 genomes]
rs28362407	1.00[EUR][1000 genomes]
rs28362418	1.00[EUR][1000 genomes]
rs58248202	1.00[EUR][1000 genomes]
rs59876692	1.00[EUR][1000 genomes]
rs61684351	1.00[EUR][1000 genomes]
rs6738288	1.00[EUR][1000 genomes]
rs73163017	1.00[EUR][1000 genomes]
rs73917006	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	esv3439845	chr2:10568326-10571274	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3402466	chr2:10568551-10571049	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1840383	chr2:10569021-10588903	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10549000-10570400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10549600-10572400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:10550200-10571800	Weak transcription	Small Intestine	intestine
4	chr2:10551200-10574800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:10553000-10573200	Weak transcription	K562	blood
6	chr2:10554600-10579200	Weak transcription	NHDF-Ad	bronchial
7	chr2:10554800-10572600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:10555800-10572600	Weak transcription	HSMM	muscle
9	chr2:10562600-10569400	Weak transcription	Brain Substantia Nigra	brain
10	chr2:10563000-10575000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:10563600-10570200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:10563600-10571800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:10563800-10572000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:10563800-10572000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:10563800-10572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:10564800-10570200	Weak transcription	Hela-S3	cervix
17	chr2:10565000-10571000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:10565200-10571400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:10565200-10572200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:10565400-10572800	Weak transcription	NH-A	brain
21	chr2:10566000-10572000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:10566600-10572000	Weak transcription	Esophagus	oesophagus
23	chr2:10566600-10572200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:10566800-10571800	Weak transcription	NHEK	skin
25	chr2:10567000-10572400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:10567000-10578600	Weak transcription	HSMMtube	muscle
27	chr2:10567200-10572000	Weak transcription	A549	lung
28	chr2:10567200-10572400	Weak transcription	Ovary	ovary
29	chr2:10567200-10572400	Weak transcription	HMEC	breast
30	chr2:10567200-10572400	Weak transcription	NHLF	lung
31	chr2:10567200-10572600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:10567200-10579800	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:10567400-10572400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:10567600-10571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:10568200-10570200	Weak transcription	Thymus	Thymus
36	chr2:10568200-10571200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:10568200-10572400	Weak transcription	Right Ventricle	heart
38	chr2:10568200-10572600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:10568200-10572600	Weak transcription	Gastric	stomach
40	chr2:10568400-10570800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:10568400-10571600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:10568400-10571800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:10568400-10571800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:10568400-10572000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:10568400-10572000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:10568400-10572000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:10568400-10572000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:10568400-10578400	Weak transcription	Liver	Liver
49	chr2:10568600-10571000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:10568600-10571600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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