Variant report

Variant	rs235279
Chromosome Location	chr21:46283390-46283391
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46283341-46284238	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:46282966-46283513	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr21:46282867-46283520	HepG2	liver:	n/a	n/a
4	POLR2A	chr21:46282610-46283848	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46263030..46264697-chr21:46282813..46284320,2	MCF-7	breast:
2	chr21:46278491..46281253-chr21:46282131..46284724,2	K562	blood:
3	chr21:46237330..46240146-chr21:46282395..46285243,3	K562	blood:
4	chr21:46282547..46285422-chr21:46309419..46311568,2	K562	blood:
5	chr21:46280336..46283440-chr21:46291266..46293624,3	K562	blood:
6	chr21:45930623..45933218-chr21:46282665..46285532,2	MCF-7	breast:
7	chr21:46236216..46237955-chr21:46282098..46284361,2	MCF-7	breast:
8	chr21:46220733..46222651-chr21:46282710..46285466,2	K562	blood:
9	chr21:46283208..46285602-chr21:46427466..46429012,2	MCF-7	breast:
10	chr21:46218496..46222154-chr21:46279503..46283710,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM207A-7	chr21:46282799-46284149	NONHSAT082888
2	lnc-FAM207A-7	chr21:46282775-46284126	l_2234_chr21:46281729-46284126_testes

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000184900	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs235277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs235278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs235281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs235283	1.00[AMR][1000 genomes]
rs235291	1.00[CEU][hapmap]
rs235299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs235376	1.00[AMR][1000 genomes]
rs450206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46267400-46285200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:46267400-46286600	Strong transcription	Fetal Stomach	stomach
3	chr21:46267600-46287000	Strong transcription	Brain Germinal Matrix	brain
4	chr21:46268200-46285800	Strong transcription	Fetal Muscle Leg	muscle
5	chr21:46268600-46285200	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr21:46268600-46285200	Strong transcription	Osteobl	bone
7	chr21:46268600-46285400	Strong transcription	Thymus	Thymus
8	chr21:46268600-46285400	Strong transcription	HUVEC	blood vessel
9	chr21:46268600-46285800	Strong transcription	Liver	Liver
10	chr21:46268600-46286000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:46268600-46286600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:46268800-46285200	Strong transcription	Dnd41	blood
13	chr21:46268800-46285200	Strong transcription	NHLF	lung
14	chr21:46268800-46285400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr21:46268800-46286600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:46268800-46286600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:46268800-46286600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:46269400-46285800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:46271400-46286800	Weak transcription	Psoas Muscle	Psoas
20	chr21:46272400-46283800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:46272600-46285200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr21:46273000-46285000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr21:46273000-46286600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr21:46273400-46285600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr21:46274000-46285000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr21:46274200-46284800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr21:46274200-46285200	Strong transcription	Fetal Intestine Small	intestine
28	chr21:46274400-46284600	Strong transcription	Fetal Intestine Large	intestine
29	chr21:46274400-46285400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr21:46274800-46285000	Weak transcription	Small Intestine	intestine
31	chr21:46275200-46284800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr21:46275200-46285000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr21:46275400-46284800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:46275400-46285000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr21:46275600-46284600	Strong transcription	Primary T cells from cord blood	blood
36	chr21:46275600-46290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr21:46275800-46284800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr21:46275800-46285200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:46276000-46284800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr21:46276200-46283800	Weak transcription	NHDF-Ad	bronchial
41	chr21:46276400-46285200	Strong transcription	Fetal Thymus	thymus
42	chr21:46276400-46286000	Strong transcription	K562	blood
43	chr21:46277000-46284800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr21:46277800-46286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr21:46278200-46285600	Strong transcription	Aorta	Aorta
46	chr21:46278200-46286400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr21:46278400-46289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr21:46278600-46284800	Strong transcription	HSMM	muscle
49	chr21:46279000-46284800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:46279400-46286600	Weak transcription	Fetal Brain Male	brain

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