Variant report

Variant	rs531581
Chromosome Location	chr21:41010251-41010252
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40996081..40997665-chr21:41007719..41010379,2	MCF-7	breast:
2	chr21:41008366..41010301-chr21:41014021..41016032,2	MCF-7	breast:
3	chr21:41008492..41011019-chr21:41023044..41025077,2	K562	blood:
4	chr21:41002066..41004417-chr21:41008308..41010539,2	MCF-7	breast:
5	chr21:41008520..41011159-chr21:41045241..41047961,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225330	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2837102	0.82[ASN][1000 genomes]
rs4818062	0.86[ASN][1000 genomes]
rs62222824	0.87[ASN][1000 genomes]
rs634486	0.87[ASN][1000 genomes]
rs856988	0.84[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	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40998200-41014800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:41002800-41013800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:41005000-41012000	Weak transcription	Small Intestine	intestine
4	chr21:41006600-41013000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:41006800-41010600	Weak transcription	Osteobl	bone
6	chr21:41007200-41010600	Weak transcription	NH-A	brain
7	chr21:41007800-41010600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr21:41007800-41011000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr21:41007800-41011200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr21:41007800-41017400	Enhancers	Fetal Intestine Small	intestine
11	chr21:41008000-41011000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr21:41008200-41011000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:41008200-41011000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:41008200-41011200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr21:41008200-41012800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:41008200-41017200	Enhancers	Fetal Intestine Large	intestine
17	chr21:41008200-41017400	Enhancers	Stomach Mucosa	stomach
18	chr21:41008400-41011000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr21:41008400-41011000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:41008400-41011000	Enhancers	Pancreas	Pancrea
21	chr21:41008600-41011000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:41008800-41015600	Weak transcription	HSMMtube	muscle
23	chr21:41009000-41010800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:41009000-41011000	Enhancers	HSMM	muscle
25	chr21:41009000-41018200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:41009400-41010600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:41009400-41015800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr21:41009600-41010800	Enhancers	Spleen	Spleen
29	chr21:41009600-41011000	Enhancers	Esophagus	oesophagus
30	chr21:41009800-41010400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr21:41009800-41010600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr21:41009800-41011000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:41009800-41011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:41009800-41013600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr21:41010000-41010600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr21:41010000-41010800	Enhancers	Gastric	stomach
37	chr21:41010000-41010800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr21:41010000-41011000	Enhancers	Colonic Mucosa	Colon
39	chr21:41010200-41010400	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr21:41010200-41010800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr21:41010200-41011000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:41010200-41011000	Weak transcription	A549	lung
43	chr21:41010200-41011200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr21:41010200-41012800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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