Variant report

Variant	rs10221560
Chromosome Location	chr2:47451193-47451194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr2:47451185-47451431	K562	blood:	n/a	n/a
2	EP300	chr2:47451030-47451371	K562	blood:	n/a	n/a
3	JUN	chr2:47451081-47451555	K562	blood:	n/a	n/a
4	TEAD4	chr2:47450945-47451537	K562	blood:	n/a	n/a
5	ATF1	chr2:47451165-47451409	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47399756..47406251-chr2:47447036..47455846,12	MCF-7	breast:
2	chr2:47399705..47406684-chr2:47448496..47456698,16	K562	blood:
3	chr2:47450260..47451975-chr2:47459520..47461671,2	MCF-7	breast:
4	chr2:47447257..47450209-chr2:47450575..47452374,2	K562	blood:
5	chr2:47450042..47452844-chr2:47571562..47573553,2	MCF-7	breast:
6	chr2:47399705..47405092-chr2:47450546..47458227,19	K562	blood:
7	chr2:47449135..47451473-chr2:47453738..47455676,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226087	TF binding region
ENSG00000143933	Chromatin interaction
ENSG00000119888	Chromatin interaction
ENSG00000234690	Chromatin interaction
ENSG00000226087	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13384441	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390912	0.98[ASN][1000 genomes]
rs13430277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72879030	0.89[ASN][1000 genomes]
rs72879063	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs998587	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	esv10649	chr2:47429316-47472670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47438000-47452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47442200-47452400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:47442600-47452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:47445800-47452800	Weak transcription	Fetal Kidney	kidney
5	chr2:47446800-47451600	Weak transcription	Colonic Mucosa	Colon
6	chr2:47446800-47452200	Weak transcription	Small Intestine	intestine
7	chr2:47447200-47455400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:47447400-47452200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:47447400-47452400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:47447600-47452200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:47447600-47452400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:47447600-47452400	Enhancers	HSMM	muscle
13	chr2:47447600-47452400	Enhancers	HSMMtube	muscle
14	chr2:47447600-47455000	Enhancers	NHLF	lung
15	chr2:47448000-47455400	Enhancers	Fetal Muscle Leg	muscle
16	chr2:47448400-47452400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:47448800-47454200	Enhancers	Colon Smooth Muscle	Colon
18	chr2:47449200-47452400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:47449400-47451200	Weak transcription	NHDF-Ad	bronchial
20	chr2:47449400-47451600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:47449400-47451600	Weak transcription	Psoas Muscle	Psoas
22	chr2:47449400-47452400	Weak transcription	Brain Germinal Matrix	brain
23	chr2:47449400-47452400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:47449400-47452400	Weak transcription	Lung	lung
25	chr2:47449400-47452600	Weak transcription	Brain Substantia Nigra	brain
26	chr2:47449400-47452800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:47449400-47453000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:47449600-47451600	Weak transcription	NH-A	brain
29	chr2:47449600-47451800	Weak transcription	Hela-S3	cervix
30	chr2:47449600-47452200	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:47449600-47452400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:47449600-47452400	Weak transcription	HMEC	breast
33	chr2:47449600-47452800	Weak transcription	Brain Anterior Caudate	brain
34	chr2:47449600-47453600	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:47450000-47454000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:47450000-47455600	Enhancers	Fetal Intestine Small	intestine
37	chr2:47450000-47455800	Enhancers	K562	blood
38	chr2:47450000-47456000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:47450200-47452800	Enhancers	Fetal Heart	heart
40	chr2:47450200-47453600	Enhancers	Osteobl	bone
41	chr2:47450200-47454600	Enhancers	Liver	Liver
42	chr2:47450200-47455600	Enhancers	Fetal Intestine Large	intestine
43	chr2:47450400-47451600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:47450400-47452600	Weak transcription	Fetal Stomach	stomach
45	chr2:47450400-47453600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:47450600-47451600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:47450600-47454000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:47450800-47452400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:47450800-47452800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:47450800-47454200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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