Variant report

Variant	rs2837035
Chromosome Location	chr21:40818379-40818380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr21:40817337-40818462	NB4	blood:	n/a	chr21:40817927-40817936
2	E2F6	chr21:40818279-40818478	K562	blood:	n/a	n/a
3	MAX	chr21:40818235-40818521	K562	blood:	n/a	n/a
4	POLR2A	chr21:40817422-40818424	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr21:40816901-40818552	K562	blood:	n/a	chr21:40817927-40817936
6	HCFC1	chr21:40817066-40818622	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr21:40817210-40818391	K562	blood:	n/a	n/a
8	ZMIZ1	chr21:40817306-40818467	K562	blood:	n/a	n/a
9	MYC	chr21:40817045-40818471	K562	blood:	n/a	chr21:40817927-40817936
10	TBP	chr21:40817244-40818491	K562	blood:	n/a	n/a
11	REST	chr21:40816476-40818393	H1-neurons	neurons:	n/a	n/a
12	MXI1	chr21:40816307-40818898	SK-N-SH	brain:	n/a	n/a
13	IRF1	chr21:40817107-40818538	K562	blood:	n/a	chr21:40818087-40818103 chr21:40817851-40817860 chr21:40817323-40817337 chr21:40818177-40818190
14	JUND	chr21:40817248-40818424	K562	blood:	n/a	chr21:40817274-40817286
15	CUX1	chr21:40817256-40818387	K562	blood:	n/a	n/a
16	UBTF	chr21:40817167-40818408	K562	blood:	n/a	n/a
17	NR2F2	chr21:40817334-40818463	K562	blood:	n/a	n/a
18	TEAD4	chr21:40816477-40818634	K562	blood:	n/a	n/a
19	NRF1	chr21:40817313-40818573	SK-N-SH	brain:	n/a	chr21:40817760-40817774 chr21:40817760-40817769 chr21:40817762-40817771 chr21:40817757-40817771 chr21:40817760-40817771 chr21:40817760-40817771
20	MAX	chr21:40817166-40818481	MCF-7	breast:	n/a	chr21:40817927-40817936
21	POLR2A	chr21:40817432-40818403	MCF10A-Er-Src	breast:	n/a	n/a
22	SIN3AK20	chr21:40816478-40818410	MCF-7	breast:	n/a	n/a
23	ZNF384	chr21:40817473-40818435	K562	blood:	n/a	n/a
24	TBL1XR1	chr21:40817465-40818772	K562	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40552682..40557091-chr21:40814575..40819975,14	K562	blood:
2	chr21:40570372..40572709-chr21:40816957..40818525,2	MCF-7	breast:
3	chr21:40719238..40723494-chr21:40813785..40819496,7	MCF-7	breast:
4	chr20:30192255..30194552-chr21:40817889..40820614,2	MCF-7	breast:
5	chr21:40808402..40815127-chr21:40815513..40821149,12	K562	blood:
6	chr21:40552682..40557546-chr21:40815502..40820280,12	K562	blood:
7	chr21:40684209..40686276-chr21:40817224..40819799,4	MCF-7	breast:
8	chr21:40684107..40685647-chr21:40816624..40819498,2	K562	blood:
9	chr21:40716633..40718546-chr21:40818076..40819955,2	MCF-7	breast:
10	chr21:40553976..40556398-chr21:40816228..40819085,2	MCF-7	breast:
11	chr21:40758008..40760801-chr21:40816074..40819285,3	MCF-7	breast:
12	chr21:40719979..40722729-chr21:40816056..40819504,5	MCF-7	breast:
13	chr21:40580653..40582501-chr21:40817931..40820372,2	K562	blood:
14	chr21:40750482..40752311-chr21:40817618..40819334,2	K562	blood:
15	chr21:40808687..40811589-chr21:40816980..40819320,3	K562	blood:
16	chr21:40780937..40783613-chr21:40817578..40819918,2	MCF-7	breast:
17	chr21:40720623..40723017-chr21:40815562..40818761,4	K562	blood:
18	chr21:40176263..40179138-chr21:40817088..40818717,2	K562	blood:
19	chr21:40555615..40557158-chr21:40816762..40818748,2	MCF-7	breast:
20	chr21:40719410..40723060-chr21:40814028..40819084,9	K562	blood:
21	chr21:40784043..40786943-chr21:40818304..40821060,2	K562	blood:
22	chr21:40683837..40687545-chr21:40816624..40819639,6	K562	blood:

No data

Variant related genes	Relation type
LCA5L	TF binding region
ENSG00000205581	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000157557	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000272991	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2063998	0.88[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs34145284	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34564680	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34664105	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35643585	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35668465	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3787926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71316678	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73367984	0.82[ASN][1000 genomes]
rs73367987	0.81[ASN][1000 genomes]
rs9636959	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40816600-40818400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr21:40816600-40818400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr21:40816600-40818400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr21:40816600-40818600	Active TSS	Brain Cingulate Gyrus	brain
5	chr21:40816800-40818400	Active TSS	Brain Germinal Matrix	brain
6	chr21:40816800-40818400	Active TSS	Right Atrium	heart
7	chr21:40816800-40818400	Active TSS	A549	lung
8	chr21:40816800-40818400	Active TSS	HSMMtube	muscle
9	chr21:40816800-40818600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:40817000-40818400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:40817000-40818400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:40817000-40818400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr21:40817000-40818400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:40817000-40818400	Active TSS	Psoas Muscle	Psoas
15	chr21:40817000-40818400	Active TSS	Right Ventricle	heart
16	chr21:40817000-40818400	Active TSS	NHLF	lung
17	chr21:40817000-40818600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:40817000-40818600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:40817200-40818400	Active TSS	Brain Substantia Nigra	brain
20	chr21:40817200-40818600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:40817200-40818600	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr21:40817400-40818400	Active TSS	Brain Hippocampus Middle	brain
23	chr21:40817800-40818400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr21:40817800-40818400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:40817800-40818400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr21:40817800-40818400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr21:40817800-40818400	Flanking Active TSS	NH-A	brain
28	chr21:40817800-40818600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr21:40817800-40818600	Flanking Active TSS	Fetal Brain Male	brain
30	chr21:40818000-40818400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr21:40818000-40818400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr21:40818000-40818400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr21:40818000-40818400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr21:40818000-40818400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:40818000-40818400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr21:40818000-40818400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr21:40818000-40818400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:40818000-40818400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr21:40818000-40818400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr21:40818000-40818400	Flanking Active TSS	Liver	Liver
41	chr21:40818000-40818400	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr21:40818000-40818400	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr21:40818000-40818400	Flanking Active TSS	Fetal Heart	heart
44	chr21:40818000-40818400	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr21:40818000-40818400	Flanking Active TSS	Fetal Stomach	stomach
46	chr21:40818000-40818400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr21:40818000-40818400	Flanking Active TSS	Osteobl	bone
48	chr21:40818000-40818600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:40818000-40818800	Flanking Active TSS	Dnd41	blood
50	chr21:40818200-40818400	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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