Variant report

Variant	rs56936044
Chromosome Location	chr3:143717944-143717945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143713688..143715373-chr3:143716970..143718917,3	K562	blood:
2	chr3:143717685..143719346-chr3:143782583..143784716,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10513238	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445413	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16854851	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988300	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58523942	1.00[ASN][1000 genomes]
rs59184234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60708157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795569	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004506	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004578	1.00[ASN][1000 genomes]
rs749211	1.00[ASN][1000 genomes]
rs7615862	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632248	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642205	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143694400-143718800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:143694400-143719400	Weak transcription	Hela-S3	cervix
3	chr3:143697000-143722800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:143697000-143729200	Weak transcription	Aorta	Aorta
5	chr3:143697200-143723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:143697200-143727800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:143698400-143721200	Weak transcription	Fetal Kidney	kidney
8	chr3:143699200-143737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:143700400-143720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:143702600-143727400	Weak transcription	Pancreas	Pancrea
11	chr3:143703200-143720600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:143703400-143719400	Weak transcription	Placenta	Placenta
13	chr3:143704600-143719600	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:143704600-143725800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:143705600-143722600	Weak transcription	Esophagus	oesophagus
16	chr3:143706400-143728000	Weak transcription	Fetal Stomach	stomach
17	chr3:143706600-143722600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:143706800-143725000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:143707000-143722600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:143708000-143729200	Weak transcription	Ovary	ovary
21	chr3:143708800-143720400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:143708800-143729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:143709000-143720600	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:143709000-143722800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:143709000-143723000	Weak transcription	Fetal Intestine Small	intestine
26	chr3:143709000-143724400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:143709200-143722600	Weak transcription	Primary B cells from cord blood	blood
28	chr3:143709200-143728000	Weak transcription	NHLF	lung
29	chr3:143709200-143729000	Weak transcription	Fetal Lung	lung
30	chr3:143709400-143723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:143710400-143719200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:143710400-143721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:143710800-143720200	Weak transcription	Liver	Liver
34	chr3:143711000-143723800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:143712000-143728600	Weak transcription	Left Ventricle	heart
36	chr3:143712200-143726600	Weak transcription	Primary T cells from cord blood	blood
37	chr3:143712400-143723000	Weak transcription	Fetal Intestine Large	intestine
38	chr3:143712800-143727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:143713200-143718400	Weak transcription	Fetal Thymus	thymus
40	chr3:143713400-143718200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:143713400-143726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:143714800-143726800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:143715000-143721000	Weak transcription	Brain Anterior Caudate	brain
44	chr3:143715000-143725400	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:143715000-143726400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr3:143715800-143719200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr3:143716600-143724000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:143717200-143722800	Weak transcription	HUVEC	blood vessel
49	chr3:143717200-143726000	Weak transcription	Brain Substantia Nigra	brain
50	chr3:143717400-143718000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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