Variant report

Variant	rs12286239
Chromosome Location	chr11:102188937-102188938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102138424..102140311-chr11:102188634..102190970,2	MCF-7	breast:
2	chr11:102175561..102178536-chr11:102186960..102189576,2	MCF-7	breast:
3	chr11:102188890..102192492-chr11:102192509..102196398,3	MCF-7	breast:
4	chr11:102176632..102179702-chr11:102185117..102189773,6	MCF-7	breast:
5	chr11:102188098..102191031-chr11:102194628..102197426,3	MCF-7	breast:
6	chr11:102187104..102190463-chr11:102217868..102220185,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110330	Chromatin interaction
ENSG00000023445	Chromatin interaction
ENSG00000271600	Chromatin interaction
ENSG00000270868	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11225205	0.85[LWK][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs12272189	0.81[AFR][1000 genomes]
rs12273914	0.81[AFR][1000 genomes]
rs12277114	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs12278448	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12278890	0.81[AFR][1000 genomes]
rs12278932	0.81[AFR][1000 genomes]
rs12278978	0.81[AFR][1000 genomes]
rs12279465	0.88[YRI][hapmap]
rs12280399	0.81[AFR][1000 genomes]
rs12280494	0.81[AFR][1000 genomes]
rs12280669	0.81[AFR][1000 genomes]
rs12284756	0.81[AFR][1000 genomes]
rs17097635	0.88[YRI][hapmap]
rs17887192	0.87[MKK][hapmap];1.00[ASN][1000 genomes]
rs28393872	0.81[AFR][1000 genomes]
rs7121665	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102187200-102189600	Flanking Active TSS	NHEK	skin
2	chr11:102187200-102191000	Active TSS	Rectal Smooth Muscle	rectum
3	chr11:102187400-102189000	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr11:102187400-102190400	Active TSS	A549	lung
5	chr11:102187400-102191400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:102187400-102191400	Active TSS	GM12878-XiMat	blood
7	chr11:102187600-102189000	Active TSS	Primary T cells fromperipheralblood	blood
8	chr11:102187600-102189000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:102187600-102189000	Active TSS	Stomach Smooth Muscle	stomach
10	chr11:102187600-102189200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:102187600-102189200	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr11:102187600-102189200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr11:102187600-102189200	Active TSS	Thymus	Thymus
14	chr11:102187600-102189400	Active TSS	Right Atrium	heart
15	chr11:102187600-102190200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:102187600-102191000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr11:102187600-102192400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:102187800-102189000	Active TSS	Fetal Intestine Large	intestine
19	chr11:102187800-102189000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:102187800-102189000	Active TSS	Small Intestine	intestine
21	chr11:102187800-102189200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:102187800-102189200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:102187800-102189200	Active TSS	Fetal Intestine Small	intestine
24	chr11:102187800-102189400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr11:102187800-102189400	Active TSS	Psoas Muscle	Psoas
26	chr11:102187800-102189600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:102187800-102189600	Flanking Active TSS	Fetal Thymus	thymus
28	chr11:102187800-102189600	Flanking Active TSS	Dnd41	blood
29	chr11:102187800-102189800	Active TSS	Pancreas	Pancrea
30	chr11:102187800-102189800	Active TSS	Spleen	Spleen
31	chr11:102187800-102190400	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr11:102187800-102190400	Active TSS	Gastric	stomach
33	chr11:102187800-102190400	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr11:102187800-102190600	Active TSS	Colonic Mucosa	Colon
35	chr11:102188000-102189000	Active TSS	Primary B cells from cord blood	blood
36	chr11:102188000-102189000	Active TSS	Brain Hippocampus Middle	brain
37	chr11:102188000-102189000	Active TSS	Brain Substantia Nigra	brain
38	chr11:102188000-102189400	Active TSS	Primary B cells from peripheral blood	blood
39	chr11:102188000-102189400	Active TSS	Lung	lung
40	chr11:102188000-102189600	Active TSS	Esophagus	oesophagus
41	chr11:102188000-102190600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:102188200-102189200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:102188200-102189400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr11:102188200-102189800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:102188200-102189800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:102188200-102193800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:102188400-102189400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr11:102188400-102189600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:102188400-102189600	Flanking Active TSS	Hela-S3	cervix
50	chr11:102188400-102189800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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