Variant report

Variant	rs2183993
Chromosome Location	chr10:45448327-45448328
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45447495..45450982-chr10:45474021..45476949,3	MCF-7	breast:
2	chr10:45439710..45443300-chr10:45445744..45449321,3	K562	blood:
3	chr10:45448181..45450867-chr10:45471052..45472632,2	K562	blood:
4	chr10:45435808..45438412-chr10:45446821..45449787,2	MCF-7	breast:
5	chr10:45444920..45446701-chr10:45447685..45449342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107551	Chromatin interaction
ENSG00000165507	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10900135	0.92[CEU][hapmap]
rs11595676	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12263146	0.85[CEU][hapmap]
rs72780655	0.98[ASN][1000 genomes]
rs870204	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45431200-45453200	Weak transcription	Gastric	stomach
2	chr10:45441400-45449200	Enhancers	Fetal Heart	heart
3	chr10:45442000-45451200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:45442400-45451000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:45442400-45453400	Weak transcription	Osteobl	bone
6	chr10:45443000-45449200	Enhancers	Right Atrium	heart
7	chr10:45443200-45449600	Enhancers	Placenta	Placenta
8	chr10:45443400-45454000	Weak transcription	Esophagus	oesophagus
9	chr10:45443800-45449600	Enhancers	HSMMtube	muscle
10	chr10:45443800-45453000	Weak transcription	Lung	lung
11	chr10:45443800-45453200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr10:45443800-45454000	Weak transcription	Psoas Muscle	Psoas
13	chr10:45444000-45448400	Weak transcription	Fetal Thymus	thymus
14	chr10:45444000-45449200	Enhancers	HepG2	liver
15	chr10:45444000-45451600	Weak transcription	Liver	Liver
16	chr10:45444200-45448400	Weak transcription	Primary T cells from cord blood	blood
17	chr10:45444400-45448400	Weak transcription	HSMM	muscle
18	chr10:45444400-45453600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr10:45444600-45448400	Weak transcription	Brain Anterior Caudate	brain
20	chr10:45445400-45453000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:45445600-45449800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr10:45445600-45451000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:45445600-45452800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:45445800-45451400	Weak transcription	Fetal Stomach	stomach
25	chr10:45445800-45453600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr10:45446000-45451000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:45446000-45453000	Weak transcription	Stomach Mucosa	stomach
28	chr10:45446000-45453600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:45446200-45449800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:45446200-45451000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:45446200-45452400	Weak transcription	Pancreas	Pancrea
32	chr10:45446200-45453200	Weak transcription	Brain Substantia Nigra	brain
33	chr10:45446200-45453600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr10:45446400-45448600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr10:45446400-45448800	Weak transcription	Brain Hippocampus Middle	brain
36	chr10:45446400-45451000	Weak transcription	Colonic Mucosa	Colon
37	chr10:45446400-45451000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:45446400-45452200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:45446400-45452800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:45446400-45453200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr10:45446400-45453600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr10:45446400-45453800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr10:45446600-45448400	Weak transcription	Fetal Muscle Leg	muscle
44	chr10:45446600-45448800	Enhancers	Fetal Lung	lung
45	chr10:45446600-45451000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr10:45446600-45451000	Weak transcription	Thymus	Thymus
47	chr10:45446600-45451200	Weak transcription	Fetal Intestine Large	intestine
48	chr10:45446600-45452200	Weak transcription	GM12878-XiMat	blood
49	chr10:45446800-45449400	Strong transcription	Primary B cells from cord blood	blood
50	chr10:45446800-45451600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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