Variant report

Variant	rs4593883
Chromosome Location	chr1:78346389-78346390
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10518561	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs12027183	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12027558	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12030080	1.00[CEU][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs12035132	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12046966	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs17100944	1.00[CEU][hapmap]
rs59656850	1.00[AFR][1000 genomes]
rs7528905	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78282800-78353400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:78298600-78352400	Weak transcription	Right Ventricle	heart
3	chr1:78299600-78353800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:78301400-78353200	Weak transcription	HSMMtube	muscle
5	chr1:78309200-78352400	Weak transcription	Aorta	Aorta
6	chr1:78312000-78353000	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:78313000-78353200	Weak transcription	HUVEC	blood vessel
8	chr1:78324600-78353800	Weak transcription	Esophagus	oesophagus
9	chr1:78327200-78353600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:78327400-78353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:78330800-78346600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:78333400-78353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:78333400-78353800	Weak transcription	Lung	lung
14	chr1:78333600-78346400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:78333600-78352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:78333600-78354000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:78333800-78352600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:78333800-78353800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:78334400-78346600	Weak transcription	Thymus	Thymus
20	chr1:78334400-78348400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:78334400-78350600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:78334400-78352600	Weak transcription	Left Ventricle	heart
23	chr1:78334400-78352600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:78334400-78353000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:78334400-78353200	Weak transcription	Fetal Lung	lung
26	chr1:78334400-78353600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:78334400-78353600	Weak transcription	Adipose Nuclei	Adipose
28	chr1:78334400-78353800	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:78334400-78353800	Weak transcription	Fetal Kidney	kidney
30	chr1:78334600-78346600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:78334600-78347200	Weak transcription	Fetal Thymus	thymus
32	chr1:78334600-78348800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:78334600-78352600	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:78334600-78353000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:78334600-78353200	Weak transcription	HSMM	muscle
36	chr1:78334600-78353200	Weak transcription	Osteobl	bone
37	chr1:78334600-78353600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:78334600-78353600	Weak transcription	Fetal Brain Female	brain
39	chr1:78334600-78353800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:78334600-78353800	Weak transcription	Placenta	Placenta
41	chr1:78334600-78353800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:78337000-78353600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:78338200-78347200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:78338600-78353400	Weak transcription	Fetal Intestine Small	intestine
45	chr1:78340800-78353800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:78341000-78346800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:78341000-78353200	Weak transcription	NHDF-Ad	bronchial
48	chr1:78341000-78353600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:78341000-78353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:78341200-78353600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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