Variant report

Variant	rs11235572
Chromosome Location	chr11:72412490-72412491
allele	C/G
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	chr11:72412041-72413167	K562	blood:	n/a	n/a
2	POLR2A	chr11:72411965-72414075	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:72412213-72412493	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72411258..72412804-chr11:72495649..72497466,2	MCF-7	breast:
2	chr11:72411342..72413114-chr11:72420679..72423374,2	MCF-7	breast:
3	chr11:72407553..72409836-chr11:72411461..72415120,3	MCF-7	breast:

Variant related genes	Relation type
ARAP1	TF binding region
ENSG00000214530	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10898865	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235566	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602233	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11605042	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12274620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12801699	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2306612	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35250343	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3765105	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3816777	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7105818	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7110501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112897	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs730783	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs900616	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv555408	chr11:72405223-72441431	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv555409	chr11:72405450-72423385	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv468636	chr11:72405868-72431679	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv555410	chr11:72405868-72431679	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72393800-72413400	Strong transcription	Fetal Intestine Small	intestine
2	chr11:72393800-72423200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:72394000-72413800	Strong transcription	Fetal Intestine Large	intestine
4	chr11:72394000-72414600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:72394000-72426800	Strong transcription	Thymus	Thymus
6	chr11:72394200-72423600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:72394200-72425800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:72394200-72429000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:72394400-72423200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:72394400-72423800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr11:72394400-72424400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:72394600-72412800	Strong transcription	Gastric	stomach
13	chr11:72394600-72413200	Strong transcription	Lung	lung
14	chr11:72394600-72428800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:72394600-72429400	Strong transcription	Primary T cells from cord blood	blood
16	chr11:72394600-72430200	Strong transcription	Dnd41	blood
17	chr11:72395000-72413600	Strong transcription	Fetal Brain Female	brain
18	chr11:72395000-72423800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr11:72395000-72429800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:72395200-72425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:72395200-72429000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:72395400-72414200	Strong transcription	Brain Angular Gyrus	brain
23	chr11:72395400-72414200	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr11:72395400-72414400	Strong transcription	Brain Germinal Matrix	brain
25	chr11:72395800-72414000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:72396000-72413600	Strong transcription	Brain Cingulate Gyrus	brain
27	chr11:72396000-72413600	Strong transcription	Brain Hippocampus Middle	brain
28	chr11:72396000-72425600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:72396000-72426000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:72396200-72413200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:72396200-72423200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:72396400-72425400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:72397000-72423400	Strong transcription	Primary B cells from cord blood	blood
34	chr11:72397200-72414200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:72397400-72414000	Strong transcription	Brain Anterior Caudate	brain
36	chr11:72397800-72414000	Strong transcription	Brain Substantia Nigra	brain
37	chr11:72397800-72425200	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:72397800-72426000	Strong transcription	Fetal Thymus	thymus
39	chr11:72398000-72425200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:72398200-72412800	Strong transcription	Ovary	ovary
41	chr11:72398200-72413600	Strong transcription	Rectal Smooth Muscle	rectum
42	chr11:72398400-72412600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:72398400-72414000	Strong transcription	Aorta	Aorta
44	chr11:72398600-72412800	Strong transcription	Colonic Mucosa	Colon
45	chr11:72398600-72423800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:72398600-72424400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:72398600-72426000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:72398800-72423600	Weak transcription	Right Atrium	heart
49	chr11:72398800-72425200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:72399000-72412600	Strong transcription	Fetal Lung	lung

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