Variant report

Variant	rs138051575
Chromosome Location	chr21:41035613-41035614
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41035008..41037061-chr21:41038244..41040532,2	K562	blood:
2	chr21:41035008..41037000-chr21:41038244..41040856,2	K562	blood:
3	chr21:40951091..40953456-chr21:41032196..41036006,4	MCF-7	breast:
4	chr21:41032394..41034370-chr21:41034767..41037566,3	MCF-7	breast:
5	chr21:41029985..41031867-chr21:41033554..41036135,2	MCF-7	breast:

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	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 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	chr21:41026400-41047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:41030200-41040400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr21:41030200-41046400	Weak transcription	Colonic Mucosa	Colon
6	chr21:41031400-41039000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr21:41031600-41038200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:41031800-41038000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:41032000-41035800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr21:41032000-41037800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr21:41032000-41038600	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr21:41032400-41038200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr21:41032600-41045200	Weak transcription	Brain Anterior Caudate	brain
14	chr21:41032800-41037000	Weak transcription	Pancreas	Pancrea
15	chr21:41032800-41047400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr21:41033000-41035800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr21:41033000-41037600	Strong transcription	Fetal Intestine Small	intestine
18	chr21:41033000-41037800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:41033000-41038800	Weak transcription	Fetal Lung	lung
20	chr21:41033000-41039000	Weak transcription	Brain Substantia Nigra	brain
21	chr21:41033000-41042000	Weak transcription	Right Atrium	heart
22	chr21:41033200-41035800	Weak transcription	Lung	lung
23	chr21:41033200-41037800	Strong transcription	Fetal Intestine Large	intestine
24	chr21:41033200-41038200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:41033200-41038600	Weak transcription	HSMMtube	muscle
26	chr21:41033200-41041800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:41033400-41038000	Weak transcription	Stomach Mucosa	stomach
28	chr21:41033800-41037600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr21:41033800-41037600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr21:41034200-41036600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:41034400-41036000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:41034400-41036000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr21:41034400-41038000	Weak transcription	Fetal Muscle Leg	muscle
34	chr21:41034400-41041600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr21:41035000-41035800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:41035000-41036000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:41035000-41036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:41035000-41036000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:41035200-41037800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr21:41035200-41038000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr21:41035600-41037000	Strong transcription	Fetal Stomach	stomach
42	chr21:41035600-41037600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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