Variant report

Variant	rs6830523
Chromosome Location	chr4:8459869-8459870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:8458852-8460078	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8459420..8461262-chr4:8464896..8467883,3	K562	blood:
2	chr4:8457452..8459896-chr4:8461830..8464579,3	K562	blood:
3	chr4:8459762..8461870-chr4:8464896..8467522,3	K562	blood:
4	chr4:8442603..8444779-chr4:8457988..8460939,2	MCF-7	breast:
5	chr4:8458147..8460116-chr4:8460485..8462982,2	MCF-7	breast:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10025940	1.00[ASN][1000 genomes]
rs10516192	1.00[CHB][hapmap];0.92[GIH][hapmap]
rs12498220	1.00[CHB][hapmap]
rs12498652	1.00[CHB][hapmap]
rs12498856	1.00[CHB][hapmap]
rs12499366	1.00[CHB][hapmap];0.84[GIH][hapmap]
rs12500188	1.00[CHB][hapmap];0.92[GIH][hapmap]
rs12504157	1.00[CHB][hapmap]
rs12504328	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap]
rs12504709	1.00[CHB][hapmap]
rs12509545	1.00[CHB][hapmap]
rs12511417	1.00[CHB][hapmap];0.84[GIH][hapmap]
rs16842284	1.00[CHB][hapmap];0.92[GIH][hapmap]
rs16842305	1.00[CHB][hapmap];0.92[GIH][hapmap]
rs16842325	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs16842333	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2386224	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs2386225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57845616	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59477910	1.00[ASN][1000 genomes]
rs62287388	1.00[ASN][1000 genomes]
rs62287389	1.00[ASN][1000 genomes]
rs6447869	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs6810854	0.91[ASW][hapmap]
rs6826283	0.82[ASW][hapmap]
rs6843048	0.80[ASW][hapmap];0.88[CEU][hapmap]
rs6849528	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6853810	0.88[CEU][hapmap]
rs6855235	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs747579	1.00[CHD][hapmap]

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	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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8445000-8460800	Weak transcription	Psoas Muscle	Psoas
2	chr4:8445200-8461400	Weak transcription	Hela-S3	cervix
3	chr4:8446400-8463200	Strong transcription	Stomach Smooth Muscle	stomach
4	chr4:8446400-8473800	Strong transcription	Fetal Stomach	stomach
5	chr4:8446600-8463600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:8446600-8463600	Strong transcription	Thymus	Thymus
7	chr4:8446600-8464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:8446600-8473400	Strong transcription	Dnd41	blood
9	chr4:8446600-8474000	Strong transcription	Fetal Muscle Leg	muscle
10	chr4:8446800-8463800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:8447000-8461800	Strong transcription	Fetal Intestine Large	intestine
12	chr4:8447000-8464000	Strong transcription	Primary B cells from cord blood	blood
13	chr4:8447000-8474400	Strong transcription	Fetal Brain Female	brain
14	chr4:8447000-8475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:8447200-8464200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:8447200-8473000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:8447400-8463600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:8447400-8474000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
22	chr4:8447600-8464000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:8447600-8472200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:8447600-8473400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr4:8447800-8461200	Strong transcription	Liver	Liver
26	chr4:8447800-8461800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:8447800-8463400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:8447800-8463400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:8447800-8463600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:8447800-8463800	Strong transcription	Brain Cingulate Gyrus	brain
31	chr4:8447800-8472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:8448000-8461400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:8448000-8461600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr4:8448000-8461800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr4:8448000-8462000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:8448000-8463200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:8448000-8463600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:8448200-8463800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:8448200-8467400	Strong transcription	Adipose Nuclei	Adipose
40	chr4:8449000-8461600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:8449400-8460000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr4:8449400-8460200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:8449600-8461400	Strong transcription	Fetal Thymus	thymus
44	chr4:8449600-8463600	Strong transcription	Spleen	Spleen
45	chr4:8449800-8461000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:8450200-8460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:8450800-8463600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:8451000-8463600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:8451200-8473600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:8451600-8460000	Strong transcription	Rectal Mucosa Donor 29	rectum

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