Variant report

Variant	rs12712984
Chromosome Location	chr2:47202671-47202672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47195345..47199186-chr2:47202255..47204268,3	MCF-7	breast:
2	chr2:47201980..47204388-chr2:47208651..47211036,2	K562	blood:
3	chr2:47201349..47204560-chr2:47402246..47404711,3	K562	blood:
4	chr2:47185789..47187827-chr2:47202245..47204290,2	MCF-7	breast:
5	chr2:47200108..47202045-chr2:47202307..47204187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	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	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10779934	0.93[CHB][hapmap];0.84[JPT][hapmap];0.81[YRI][hapmap]
rs11125103	0.86[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125104	0.81[EUR][1000 genomes]
rs1122516	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11680492	0.91[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11685461	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11685605	0.82[CHB][hapmap]
rs12052808	0.82[CHB][hapmap]
rs12712980	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12712981	0.91[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12712982	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12712983	0.86[CHB][hapmap]
rs13014374	0.89[ASN][1000 genomes]
rs13395498	0.81[CHB][hapmap]
rs1433773	0.82[CHB][hapmap]
rs1529774	0.80[ASN][1000 genomes]
rs17480779	0.82[CHB][hapmap]
rs1865258	0.93[CHB][hapmap];0.87[YRI][hapmap]
rs1865261	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2278449	0.81[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs2278450	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs28434195	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28694585	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4952857	0.86[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4953437	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4953438	0.90[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6544943	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6544944	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6713810	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6727651	0.90[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6745836	0.81[ASN][1000 genomes]
rs735887	0.89[ASN][1000 genomes]
rs735888	0.87[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs736683	0.81[CHB][hapmap]
rs746915	0.80[CHB][hapmap]
rs7557193	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7558171	0.82[CHB][hapmap]
rs7558196	0.87[CHB][hapmap]
rs7558419	0.86[CHB][hapmap]
rs7560371	0.86[CHB][hapmap]
rs7602813	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs892380	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs892381	0.81[CHB][hapmap]

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:117 , 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	chr2:47184600-47205000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:47185000-47206000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:47185200-47210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:47185400-47205800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:47185400-47210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:47186400-47205600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:47186800-47205200	Weak transcription	Gastric	stomach
12	chr2:47186800-47205800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:47187400-47206000	Weak transcription	Fetal Brain Female	brain
14	chr2:47187800-47203200	Weak transcription	Brain Germinal Matrix	brain
15	chr2:47187800-47210200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:47188000-47205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:47188000-47207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:47193800-47204000	Strong transcription	Primary T cells from cord blood	blood
19	chr2:47195600-47205200	Weak transcription	Fetal Lung	lung
20	chr2:47195600-47210400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:47195600-47212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:47196000-47205800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:47196400-47211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:47196600-47227800	Strong transcription	Dnd41	blood
25	chr2:47197200-47203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:47197600-47206000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:47198000-47203600	Weak transcription	Aorta	Aorta
28	chr2:47198000-47204000	Weak transcription	Left Ventricle	heart
29	chr2:47198000-47209800	Weak transcription	Right Atrium	heart
30	chr2:47198200-47203400	Weak transcription	Lung	lung
31	chr2:47198200-47203800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:47198200-47205800	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:47198200-47206800	Weak transcription	Right Ventricle	heart
34	chr2:47198400-47203400	Weak transcription	Brain Angular Gyrus	brain
35	chr2:47198400-47208000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:47198800-47204000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:47199000-47203200	Weak transcription	Liver	Liver
38	chr2:47199200-47208600	Weak transcription	Small Intestine	intestine
39	chr2:47199400-47208400	Weak transcription	HUVEC	blood vessel
40	chr2:47199600-47203800	Strong transcription	GM12878-XiMat	blood
41	chr2:47199600-47209600	Strong transcription	Osteobl	bone
42	chr2:47199800-47208400	Strong transcription	Fetal Intestine Small	intestine
43	chr2:47199800-47209600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:47200000-47203200	Weak transcription	Spleen	Spleen
45	chr2:47200000-47203200	Weak transcription	HMEC	breast
46	chr2:47200000-47204200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:47200000-47205200	Weak transcription	Pancreas	Pancrea
48	chr2:47200000-47207800	Strong transcription	HepG2	liver
49	chr2:47200000-47207800	Weak transcription	K562	blood
50	chr2:47200200-47204600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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