Variant report

Variant	rs6855235
Chromosome Location	chr4:8452248-8452249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:8452222-8452291	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr4:8452037-8452413	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8451516..8453879-chr4:8455754..8457384,2	MCF-7	breast:
2	chr4:8427464..8431321-chr4:8450417..8453028,3	MCF-7	breast:
3	chr4:8451706..8454826-chr4:8468396..8471846,3	K562	blood:
4	chr4:8444925..8447742-chr4:8450558..8453133,4	K562	blood:
5	chr4:8448973..8451278-chr4:8451762..8453729,2	K562	blood:
6	chr4:8442651..8444770-chr4:8450596..8453377,3	MCF-7	breast:

No data

Variant related genes	Relation type
TRMT44	TF binding region
ENSG00000155275	Chromatin interaction
ENSG00000251186	Chromatin interaction
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10025940	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516192	1.00[CHB][hapmap]
rs12498220	1.00[CHB][hapmap]
rs12498652	1.00[CHB][hapmap]
rs12498856	1.00[CHB][hapmap]
rs12499366	1.00[CHB][hapmap]
rs12500188	1.00[CHB][hapmap]
rs12504157	1.00[CHB][hapmap]
rs12504328	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12504709	1.00[CHB][hapmap]
rs12509545	1.00[CHB][hapmap]
rs12511417	1.00[CHB][hapmap]
rs16842284	1.00[CHB][hapmap]
rs16842305	1.00[CHB][hapmap]
rs16842325	1.00[CEU][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842333	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2386224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2386225	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs57229672	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57845616	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59477910	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62287388	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62287389	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6814163	0.80[CEU][hapmap]
rs6830523	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6849528	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6852348	0.80[CEU][hapmap];0.83[AMR][1000 genomes]
rs6853292	0.80[ASW][hapmap]
rs747579	1.00[CHD][hapmap]
rs7686550	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8443600-8455400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:8444000-8452800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:8444200-8456800	Weak transcription	A549	lung
4	chr4:8444400-8452400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:8444400-8455400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:8444600-8452800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:8444600-8455800	Weak transcription	NHDF-Ad	bronchial
8	chr4:8444800-8452600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:8444800-8452600	Weak transcription	HUVEC	blood vessel
10	chr4:8444800-8453400	Weak transcription	Fetal Brain Male	brain
11	chr4:8444800-8458400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:8445000-8454600	Weak transcription	NH-A	brain
13	chr4:8445000-8454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:8445000-8460800	Weak transcription	Psoas Muscle	Psoas
15	chr4:8445200-8454600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:8445200-8454600	Weak transcription	Small Intestine	intestine
17	chr4:8445200-8461400	Weak transcription	Hela-S3	cervix
18	chr4:8445400-8453800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:8445400-8455000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:8445600-8453800	Weak transcription	Right Atrium	heart
21	chr4:8445800-8453400	Weak transcription	Fetal Heart	heart
22	chr4:8446400-8457400	Strong transcription	Fetal Intestine Small	intestine
23	chr4:8446400-8463200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr4:8446400-8473800	Strong transcription	Fetal Stomach	stomach
25	chr4:8446600-8463600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:8446600-8463600	Strong transcription	Thymus	Thymus
27	chr4:8446600-8464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:8446600-8473400	Strong transcription	Dnd41	blood
29	chr4:8446600-8474000	Strong transcription	Fetal Muscle Leg	muscle
30	chr4:8446800-8456800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr4:8446800-8463800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:8447000-8453600	Strong transcription	Left Ventricle	heart
33	chr4:8447000-8458200	Strong transcription	HepG2	liver
34	chr4:8447000-8461800	Strong transcription	Fetal Intestine Large	intestine
35	chr4:8447000-8464000	Strong transcription	Primary B cells from cord blood	blood
36	chr4:8447000-8474400	Strong transcription	Fetal Brain Female	brain
37	chr4:8447000-8475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:8447200-8452600	Strong transcription	Placenta	Placenta
40	chr4:8447200-8457400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:8447200-8458000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:8447200-8458200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:8447200-8464200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr4:8447200-8473000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:8447400-8463600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:8447400-8474000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
49	chr4:8447600-8464000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:8447600-8472200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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