Variant report

Variant	rs12627708
Chromosome Location	chr21:41032567-41032568
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41031211..41034149-chr21:41037410..41039616,2	MCF-7	breast:
2	chr21:41031017..41032676-chr21:41032802..41034733,2	K562	blood:
3	chr21:40951091..40953456-chr21:41032196..41036006,4	MCF-7	breast:
4	chr21:41026147..41029890-chr21:41031427..41034396,4	MCF-7	breast:
5	chr21:41032394..41034370-chr21:41034767..41037566,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183778	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1734930	1.00[JPT][hapmap]
rs2837083	1.00[JPT][hapmap]
rs483318	1.00[JPT][hapmap]
rs503729	1.00[JPT][hapmap]
rs523372	1.00[JPT][hapmap]
rs528499	1.00[JPT][hapmap]
rs529409	1.00[JPT][hapmap]
rs551439	1.00[JPT][hapmap]
rs551680	1.00[JPT][hapmap]
rs555963	1.00[JPT][hapmap]
rs562285	1.00[JPT][hapmap]
rs563259	1.00[JPT][hapmap]
rs564126	1.00[JPT][hapmap]
rs571227	1.00[JPT][hapmap]
rs585092	1.00[JPT][hapmap]
rs602107	1.00[JPT][hapmap]
rs606003	1.00[JPT][hapmap]
rs606414	1.00[JPT][hapmap]
rs611958	1.00[JPT][hapmap]
rs613758	1.00[JPT][hapmap]
rs626856	1.00[JPT][hapmap]
rs628995	1.00[JPT][hapmap]
rs636599	1.00[JPT][hapmap]
rs644080	1.00[JPT][hapmap]
rs665778	1.00[JPT][hapmap]
rs7276418	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41013000-41039000	Weak transcription	Gastric	stomach
2	chr21:41013000-41041800	Weak transcription	Small Intestine	intestine
3	chr21:41014000-41035600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:41017400-41034600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:41022000-41035200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:41025400-41034400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:41026400-41047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:41029200-41034200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:41030200-41040400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr21:41030200-41046400	Weak transcription	Colonic Mucosa	Colon
11	chr21:41031200-41032800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:41031200-41035600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr21:41031400-41032600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr21:41031400-41033000	Enhancers	Fetal Lung	lung
15	chr21:41031400-41033400	Enhancers	Fetal Heart	heart
16	chr21:41031400-41039000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr21:41031600-41032600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:41031600-41033000	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr21:41031600-41033000	Enhancers	HUVEC	blood vessel
20	chr21:41031600-41033200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:41031600-41038200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr21:41031800-41032600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr21:41031800-41032800	Enhancers	Fetal Intestine Large	intestine
24	chr21:41031800-41032800	Enhancers	Pancreas	Pancrea
25	chr21:41031800-41033000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:41031800-41033200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr21:41031800-41033200	Enhancers	Fetal Stomach	stomach
28	chr21:41031800-41033800	Enhancers	Placenta	Placenta
29	chr21:41031800-41034400	Enhancers	Fetal Muscle Leg	muscle
30	chr21:41031800-41038000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:41032000-41032600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:41032000-41032600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr21:41032000-41032600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:41032000-41032600	Enhancers	Brain Anterior Caudate	brain
35	chr21:41032000-41032600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr21:41032000-41032600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr21:41032000-41032600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr21:41032000-41032600	Flanking Active TSS	A549	lung
39	chr21:41032000-41032600	Flanking Active TSS	Osteobl	bone
40	chr21:41032000-41032800	Enhancers	Brain Germinal Matrix	brain
41	chr21:41032000-41033000	Genic enhancers	Fetal Intestine Small	intestine
42	chr21:41032000-41033000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr21:41032000-41033200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr21:41032000-41033200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:41032000-41033200	Enhancers	Lung	lung
46	chr21:41032000-41035800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr21:41032000-41037800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr21:41032000-41038600	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr21:41032200-41032600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:41032200-41032600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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