Variant report

Variant	rs10183233
Chromosome Location	chr2:47197125-47197126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47167293..47170062-chr2:47196955..47199343,2	K562	blood:
2	chr2:47196068..47199021-chr2:47522197..47525047,2	K562	blood:
3	chr2:47196076..47198728-chr2:47417712..47420454,3	MCF-7	breast:
4	chr2:47191916..47197742-chr2:47401234..47405560,7	MCF-7	breast:
5	chr2:47197025..47200212-chr2:47401779..47404367,3	K562	blood:
6	chr2:47195860..47200774-chr2:47207735..47210386,4	K562	blood:
7	chr2:47195345..47199186-chr2:47202255..47204268,3	MCF-7	breast:
8	chr2:47166867..47170590-chr2:47194468..47200247,20	MCF-7	breast:
9	chr2:47196446..47198984-chr2:47567520..47569154,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10495941	0.83[CHB][hapmap]
rs11125103	0.83[CHB][hapmap]
rs11125106	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11125107	0.83[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs11125108	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11680029	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11680492	0.83[CHB][hapmap]
rs11681157	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11685605	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs11883507	0.80[ASN][1000 genomes]
rs12052808	0.83[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs12712980	0.83[CHB][hapmap]
rs12712981	0.83[CHB][hapmap]
rs12712983	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs13002842	0.91[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13014374	0.94[CHB][hapmap]
rs13395498	0.83[CHB][hapmap];0.86[ASN][1000 genomes]
rs13406452	0.86[ASN][1000 genomes]
rs1433773	0.83[CHB][hapmap]
rs17480779	0.83[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1865261	0.83[CHB][hapmap]
rs1865262	0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2347260	0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2881587	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35779609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952857	0.83[CHB][hapmap]
rs4952858	0.88[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4953437	0.83[CHB][hapmap]
rs4953438	0.83[CHB][hapmap]
rs6716882	0.92[ASN][1000 genomes]
rs6727651	0.83[CHB][hapmap]
rs6731862	0.88[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6731875	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6734201	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736683	0.96[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs746915	0.80[CEU][hapmap];0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs7557193	0.83[CHB][hapmap]
rs7558171	0.83[CHB][hapmap]
rs7560371	0.82[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7605942	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs877047	0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs877048	0.89[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs892381	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs993847	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
2	chr2:47174400-47212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:47177200-47210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:47181600-47210800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:47184600-47197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:47184600-47205000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:47185000-47206000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:47185200-47210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:47185400-47205800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:47185400-47210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:47186200-47200800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:47186400-47205600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:47186800-47205200	Weak transcription	Gastric	stomach
14	chr2:47186800-47205800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:47187400-47206000	Weak transcription	Fetal Brain Female	brain
16	chr2:47187800-47203200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:47187800-47210200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:47188000-47205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:47188000-47207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:47191200-47198800	Enhancers	Placenta	Placenta
21	chr2:47193800-47204000	Strong transcription	Primary T cells from cord blood	blood
22	chr2:47194800-47197600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:47194800-47198800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:47194800-47200200	Strong transcription	Thymus	Thymus
25	chr2:47195000-47198800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:47195000-47198800	Genic enhancers	Fetal Intestine Small	intestine
27	chr2:47195200-47197600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:47195200-47202200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:47195400-47202000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:47195600-47197200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:47195600-47197200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:47195600-47197200	Weak transcription	Lung	lung
33	chr2:47195600-47197400	Weak transcription	Right Atrium	heart
34	chr2:47195600-47197600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:47195600-47199000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:47195600-47200200	Enhancers	Stomach Mucosa	stomach
37	chr2:47195600-47205200	Weak transcription	Fetal Lung	lung
38	chr2:47195600-47210400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:47195600-47212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:47195800-47197200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:47195800-47197200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:47195800-47197200	Weak transcription	Aorta	Aorta
43	chr2:47195800-47197400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:47195800-47197400	Weak transcription	Left Ventricle	heart
45	chr2:47195800-47197400	Weak transcription	Psoas Muscle	Psoas
46	chr2:47195800-47197400	Weak transcription	HUVEC	blood vessel
47	chr2:47195800-47197600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:47195800-47197600	Weak transcription	NH-A	brain
49	chr2:47195800-47198000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:47195800-47198800	Enhancers	NHEK	skin

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