Variant report

Variant	rs189173444
Chromosome Location	chr21:41000635-41000636
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr21:41000318-41000733	HCT-116	colon:	n/a	n/a
2	POLR2A	chr21:41000084-41000859	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:41000433..41001034-chr21:41095112..41095627,2	MCF-7	breast:
2	chr21:40999161..41001792-chr21:41002770..41005621,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225330	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40985600-41002400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:40985600-41008400	Weak transcription	Pancreas	Pancrea
3	chr21:40986000-41004200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:40989600-41004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:40990200-41008200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:40991400-41002400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:40995800-41009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:40997600-41002200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr21:40997800-41003000	Weak transcription	Fetal Intestine Large	intestine
10	chr21:40997800-41003600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr21:40998200-41014800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr21:40998400-41002200	Weak transcription	Stomach Mucosa	stomach
13	chr21:40998400-41002400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:40999200-41002400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:40999400-41000800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr21:40999400-41002200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr21:40999400-41002200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:40999400-41002200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:40999400-41004200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr21:40999400-41004800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr21:40999400-41007800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:40999600-41001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr21:41000400-41001200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:41000400-41001200	Enhancers	Fetal Intestine Small	intestine
25	chr21:41000600-41001000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:41000600-41006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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