Variant report

Variant	rs1261916
Chromosome Location	chr4:75073477-75073478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75072066..75073934-chr4:75080235..75082986,2	K562	blood:
2	chr4:75071138..75073600-chr4:75079457..75081137,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1246783	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1271964	1.00[AMR][1000 genomes]
rs1272388	0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs476556	1.00[AMR][1000 genomes]
rs478987	0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs488460	1.00[AMR][1000 genomes]
rs524018	0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs524111	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs533770	0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs543582	1.00[AMR][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:65 , 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	chr4:75056800-75096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:75059200-75081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:75060000-75080200	Weak transcription	Dnd41	blood
6	chr4:75063800-75076600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:75064200-75096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:75064400-75075000	Weak transcription	Spleen	Spleen
9	chr4:75065000-75086200	Weak transcription	Psoas Muscle	Psoas
10	chr4:75066200-75075000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:75066600-75074800	Weak transcription	Fetal Brain Female	brain
12	chr4:75067600-75074800	Weak transcription	Brain Germinal Matrix	brain
13	chr4:75067800-75097000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:75068400-75075600	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:75068400-75076800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:75068400-75082400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:75068400-75093000	Weak transcription	Thymus	Thymus
18	chr4:75068400-75096600	Weak transcription	Adipose Nuclei	Adipose
19	chr4:75068600-75075200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:75069600-75091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:75070600-75074000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:75070800-75073800	Enhancers	NHDF-Ad	bronchial
23	chr4:75070800-75074400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:75071000-75074000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:75071000-75074200	Enhancers	NH-A	brain
26	chr4:75071400-75074000	Enhancers	Fetal Heart	heart
27	chr4:75071400-75074800	Enhancers	NHEK	skin
28	chr4:75071800-75074000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:75071800-75074200	Enhancers	HMEC	breast
30	chr4:75071800-75096400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr4:75072000-75075000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:75072200-75074000	Enhancers	HSMM	muscle
33	chr4:75072200-75075000	Enhancers	K562	blood
34	chr4:75072200-75080200	Weak transcription	Fetal Intestine Small	intestine
35	chr4:75072200-75099200	Weak transcription	Ovary	ovary
36	chr4:75072400-75073800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:75072400-75074000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:75072400-75074200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr4:75072400-75074600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:75072600-75074400	Flanking Active TSS	GM12878-XiMat	blood
41	chr4:75072600-75074600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:75072800-75073600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:75072800-75074000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:75072800-75074200	Strong transcription	Fetal Thymus	thymus
45	chr4:75072800-75074400	Enhancers	HSMMtube	muscle
46	chr4:75072800-75074600	Strong transcription	Liver	Liver
47	chr4:75072800-75075800	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:75072800-75076000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:75072800-75080200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:75072800-75080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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