Variant report

Variant	rs9843503
Chromosome Location	chr3:45849270-45849271
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45817620..45820058-chr3:45848414..45850777,2	K562	blood:
2	chr3:45841159..45843943-chr3:45848484..45850929,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12721497	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13322643	0.80[AFR][1000 genomes]
rs17078401	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2191032	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4683145	0.86[ASN][1000 genomes]
rs9856760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45838400-45860000	Weak transcription	Gastric	stomach
2	chr3:45842000-45849400	Strong transcription	Dnd41	blood
3	chr3:45842400-45857400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:45842400-45859200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:45842400-45859800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:45842600-45854400	Weak transcription	Fetal Intestine Large	intestine
7	chr3:45843800-45849800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:45843800-45856400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:45844000-45857400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:45845400-45853600	Weak transcription	Fetal Intestine Small	intestine
11	chr3:45845400-45858800	Weak transcription	Brain Germinal Matrix	brain
12	chr3:45846600-45857400	Weak transcription	Fetal Brain Female	brain
13	chr3:45847600-45849800	Genic enhancers	Fetal Thymus	thymus
14	chr3:45847800-45871400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:45848000-45850000	Enhancers	Brain Substantia Nigra	brain
16	chr3:45848000-45864400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:45848200-45850600	Enhancers	Thymus	Thymus
18	chr3:45848600-45849600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:45848600-45849800	Enhancers	Stomach Smooth Muscle	stomach
20	chr3:45848600-45850200	Enhancers	Brain Angular Gyrus	brain
21	chr3:45848600-45860800	Weak transcription	Primary T cells from cord blood	blood
22	chr3:45848800-45850200	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:45848800-45850200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr3:45849000-45849600	Enhancers	Brain Anterior Caudate	brain
25	chr3:45849000-45850000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:45849000-45850200	Enhancers	Brain Hippocampus Middle	brain
27	chr3:45849000-45850200	Enhancers	Fetal Heart	heart
28	chr3:45849200-45849400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:45849200-45849400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:45849200-45849400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:45849200-45849400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:45849200-45849400	Enhancers	Fetal Lung	lung
33	chr3:45849200-45849600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:45849200-45849600	Enhancers	HSMMtube	muscle
35	chr3:45849200-45849800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:45849200-45849800	Enhancers	HepG2	liver
37	chr3:45849200-45850200	Enhancers	Skeletal Muscle Male	skeletal muscle

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