Variant report

Variant	rs915877
Chromosome Location	chr21:45502844-45502845
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45502612..45504623-chr21:45528880..45531046,2	K562	blood:
2	chr21:45216337..45218893-chr21:45502458..45504262,2	MCF-7	breast:
3	chr21:45501440..45503025-chr21:45527582..45529145,2	MCF-7	breast:
4	chr21:45500790..45503000-chr21:45509990..45512601,2	MCF-7	breast:
5	chr21:45502065..45504473-chr21:45519018..45520739,2	K562	blood:
6	chr21:45502454..45504356-chr21:45527025..45529018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160214	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1005164	1.00[CHD][hapmap]
rs2838506	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs2838535	1.00[CHD][hapmap]
rs4819382	1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs6518349	1.00[CHD][hapmap]
rs7282403	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7283041	1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs9978531	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs9981086	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs9982806	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45472600-45504400	Strong transcription	Fetal Stomach	stomach
3	chr21:45472800-45503800	Strong transcription	Liver	Liver
4	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:45481600-45510800	Strong transcription	Dnd41	blood
6	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:45481800-45503800	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr21:45482000-45503000	Strong transcription	Primary B cells from cord blood	blood
9	chr21:45485800-45506800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr21:45485800-45506800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr21:45486000-45503000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr21:45486200-45503400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:45486200-45524000	Strong transcription	GM12878-XiMat	blood
14	chr21:45488400-45523800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:45488600-45507200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:45489000-45504000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:45489000-45504000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr21:45489000-45504600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:45489400-45503800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr21:45491200-45510800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:45491400-45514600	Strong transcription	Osteobl	bone
22	chr21:45491600-45514600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:45492600-45510800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:45493000-45508400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:45493000-45510400	Strong transcription	HSMM	muscle
26	chr21:45493000-45510800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr21:45493400-45514800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr21:45493600-45504000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr21:45493600-45510800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:45493600-45510800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr21:45493600-45515000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr21:45493800-45503000	Strong transcription	Fetal Intestine Large	intestine
33	chr21:45493800-45504400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr21:45493800-45514400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:45494000-45504000	Strong transcription	HSMMtube	muscle
36	chr21:45494000-45510800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr21:45495000-45507800	Weak transcription	Fetal Brain Male	brain
38	chr21:45495600-45526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr21:45496200-45510800	Strong transcription	Fetal Brain Female	brain
40	chr21:45496200-45514200	Strong transcription	Brain Germinal Matrix	brain
41	chr21:45496200-45514600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr21:45497000-45510000	Weak transcription	Psoas Muscle	Psoas
43	chr21:45497200-45506800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:45497400-45514600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr21:45497600-45503000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr21:45498000-45504000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr21:45498000-45512400	Strong transcription	HMEC	breast
48	chr21:45498400-45503400	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr21:45498400-45503400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr21:45498400-45524000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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