Variant report

Variant	rs505019
Chromosome Location	chr4:75067799-75067800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75066338..75068853-chr4:75595960..75598324,2	MCF-7	breast:
2	chr4:75067335..75068932-chr4:75162258..75164464,2	MCF-7	breast:
3	chr4:75061583..75063113-chr4:75065818..75068226,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10006334	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10029404	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[MKK][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246764	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28414214	1.00[ASN][1000 genomes]
rs28479222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28710869	1.00[ASN][1000 genomes]
rs28740836	1.00[ASN][1000 genomes]
rs537859	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553444	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7441673	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9993140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9994571	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75024800-75080600	Weak transcription	Left Ventricle	heart
2	chr4:75025400-75073600	Weak transcription	Right Ventricle	heart
3	chr4:75028800-75072800	Weak transcription	Liver	Liver
4	chr4:75034200-75071800	Weak transcription	HMEC	breast
5	chr4:75049400-75071400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:75053200-75073400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:75056800-75096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:75058200-75067800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:75058200-75071400	Weak transcription	Ovary	ovary
10	chr4:75058800-75073000	Weak transcription	Brain Angular Gyrus	brain
11	chr4:75059200-75081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:75060000-75080200	Weak transcription	Dnd41	blood
13	chr4:75061800-75068200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:75062200-75071000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:75063200-75070600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:75063200-75071000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:75063200-75072000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:75063400-75071000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:75063800-75076600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:75064200-75070800	Weak transcription	GM12878-XiMat	blood
21	chr4:75064200-75096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:75064400-75067800	Weak transcription	Primary B cells from cord blood	blood
23	chr4:75064400-75075000	Weak transcription	Spleen	Spleen
24	chr4:75064600-75069400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:75065000-75086200	Weak transcription	Psoas Muscle	Psoas
26	chr4:75065200-75071600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:75065400-75070200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:75065800-75071400	Weak transcription	Aorta	Aorta
29	chr4:75066200-75071600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:75066200-75075000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:75066400-75068200	Weak transcription	NH-A	brain
32	chr4:75066400-75069000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:75066400-75073000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:75066600-75069400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:75066600-75069600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:75066600-75074800	Weak transcription	Fetal Brain Female	brain
37	chr4:75067000-75067800	Strong transcription	NHEK	skin
38	chr4:75067000-75068000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:75067000-75068400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:75067000-75068400	Strong transcription	Primary T cells from cord blood	blood
41	chr4:75067000-75068400	Strong transcription	Brain Anterior Caudate	brain
42	chr4:75067000-75068400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr4:75067000-75068400	Enhancers	Small Intestine	intestine
44	chr4:75067000-75068600	Strong transcription	Fetal Muscle Leg	muscle
45	chr4:75067000-75070000	Enhancers	Fetal Intestine Large	intestine
46	chr4:75067200-75069200	Enhancers	HepG2	liver
47	chr4:75067200-75071000	Weak transcription	HSMM	muscle
48	chr4:75067400-75067800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:75067400-75068400	Strong transcription	Adipose Nuclei	Adipose
50	chr4:75067400-75068400	Strong transcription	Brain Hippocampus Middle	brain

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