Variant report

Variant	rs4302483
Chromosome Location	chr4:78067574-78067575
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77992562..77994708-chr4:78066148..78068888,2	MCF-7	breast:
2	chr4:77996103..77998290-chr4:78066970..78070859,4	MCF-7	breast:
3	chr4:77994701..77998612-chr4:78066098..78069979,6	MCF-7	breast:
4	chr4:78067084..78069572-chr4:78071831..78074311,3	MCF-7	breast:
5	chr4:78066334..78068831-chr4:78072502..78074956,2	K562	blood:
6	chr4:78066677..78070110-chr4:78071509..78075152,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction
ENSG00000201641	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10016483	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10016676	1.00[ASN][1000 genomes]
rs10026646	0.95[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.96[MEX][hapmap]
rs11097704	0.88[JPT][hapmap]
rs11724432	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12500115	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs12504752	0.86[JPT][hapmap]
rs17397604	0.89[ASN][1000 genomes]
rs28503908	0.85[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[ASN][1000 genomes]
rs28540841	0.90[ASN][1000 genomes]
rs28648488	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4150106	0.91[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap]
rs4241604	0.86[JPT][hapmap]
rs4518274	0.86[JPT][hapmap]
rs4544732	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4859473	0.86[JPT][hapmap]
rs4859474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4859751	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4859752	0.82[JPT][hapmap]
rs55663411	0.89[ASN][1000 genomes]
rs6849124	0.81[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6849534	0.82[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs729240	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7438755	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7672053	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7688769	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78064000-78067600	Weak transcription	HSMMtube	muscle
2	chr4:78065600-78069200	Enhancers	Fetal Intestine Large	intestine
3	chr4:78065800-78068200	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr4:78065800-78069400	Enhancers	Fetal Intestine Small	intestine
5	chr4:78066400-78068400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:78066400-78069400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:78066400-78069800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:78066600-78068200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:78066600-78068400	Enhancers	Primary B cells from peripheral blood	blood
10	chr4:78066600-78068600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr4:78066600-78068800	Enhancers	Primary T cells from cord blood	blood
12	chr4:78066600-78068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:78066800-78067600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr4:78066800-78067600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr4:78066800-78067800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr4:78066800-78067800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:78066800-78067800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:78066800-78068000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr4:78066800-78068200	Enhancers	Stomach Mucosa	stomach
20	chr4:78066800-78068400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:78066800-78068400	Enhancers	HUVEC	blood vessel
22	chr4:78066800-78068600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:78066800-78068600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:78066800-78068600	Enhancers	Fetal Thymus	thymus
25	chr4:78066800-78068800	Enhancers	K562	blood
26	chr4:78067000-78067600	Enhancers	Adipose Nuclei	Adipose
27	chr4:78067000-78067600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr4:78067000-78067800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:78067000-78068000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:78067000-78068000	Enhancers	Duodenum Mucosa	Duodenum
31	chr4:78067000-78068200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:78067000-78068200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:78067000-78068200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:78067000-78068200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr4:78067000-78068200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:78067000-78068200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:78067000-78068200	Enhancers	Colonic Mucosa	Colon
38	chr4:78067000-78068200	Enhancers	NHEK	skin
39	chr4:78067000-78068400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:78067000-78068600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:78067000-78068600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:78067000-78068600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:78067000-78069200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:78067200-78067600	Enhancers	Placenta	Placenta
45	chr4:78067200-78067600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr4:78067200-78067600	Flanking Active TSS	Hela-S3	cervix
47	chr4:78067200-78067800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:78067200-78067800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:78067200-78067800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:78067200-78067800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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