Variant report

Variant	rs608229
Chromosome Location	chr21:41020324-41020325
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41019850..41022389-chr21:41024531..41027335,2	MCF-7	breast:
2	chr21:41017789..41020626-chr21:41020907..41023254,2	K562	blood:
3	chr21:41018391..41020649-chr21:41022450..41024228,2	MCF-7	breast:
4	chr21:41014679..41017448-chr21:41019798..41023057,5	MCF-7	breast:
5	chr21:41010805..41012475-chr21:41019016..41021476,3	MCF-7	breast:
6	chr21:41014663..41016980-chr21:41018711..41021161,2	MCF-7	breast:
7	chr21:41011031..41013362-chr21:41020026..41022640,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs609145	0.82[JPT][hapmap]
rs610353	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs652088	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs679857	0.81[JPT][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	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
5	nsv459260	chr21:41000353-41028197	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv587485	chr21:41000353-41028197	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

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	chr21:41015800-41023000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:41015800-41025000	Weak transcription	Brain Anterior Caudate	brain
6	chr21:41016000-41020600	Weak transcription	Fetal Lung	lung
7	chr21:41016000-41022000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:41016000-41025000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:41016000-41025400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr21:41016200-41024200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr21:41016200-41025200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:41016600-41022400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:41016600-41023000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:41017400-41034600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:41017600-41020400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:41017600-41022200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:41017800-41024000	Weak transcription	Pancreas	Pancrea
18	chr21:41017800-41026000	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr21:41017800-41028200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr21:41018000-41021000	Strong transcription	Fetal Intestine Small	intestine
21	chr21:41018000-41024000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr21:41018000-41025200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:41018200-41020400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:41018200-41020800	Strong transcription	Fetal Intestine Large	intestine
25	chr21:41018200-41021400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr21:41018200-41024000	Weak transcription	Fetal Stomach	stomach
27	chr21:41018200-41029800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr21:41018800-41021600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:41018800-41021600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr21:41019000-41020400	Enhancers	HSMM	muscle
31	chr21:41019000-41020400	Enhancers	NH-A	brain
32	chr21:41019200-41020400	Enhancers	Osteobl	bone
33	chr21:41019200-41020600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr21:41019200-41020800	Enhancers	HSMMtube	muscle
35	chr21:41019400-41020400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:41019400-41020800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr21:41019800-41020600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:41019800-41022000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr21:41020200-41020400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:41020200-41022000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr21:41020200-41022200	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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