Variant report

Variant	rs3844070
Chromosome Location	chr5:115713639-115713640
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	chr5:115711711..115714418-chr5:115718644..115720507,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10044332	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241386	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12654057	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12656608	0.93[ASN][1000 genomes]
rs1351136	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1351137	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs153614	0.82[CHB][hapmap]
rs168833	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs17139649	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17139652	0.97[ASN][1000 genomes]
rs187591	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1991446	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253953	0.83[ASN][1000 genomes]
rs253956	0.83[ASN][1000 genomes]
rs253960	0.84[CHB][hapmap]
rs27500	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28125	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs37182	0.82[CHB][hapmap]
rs72808983	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs784482	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs804141	0.80[JPT][hapmap]
rs804142	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr5:115695800-115714600	Weak transcription	Thymus	Thymus
3	chr5:115697600-115714000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:115698000-115722800	Weak transcription	Pancreas	Pancrea
6	chr5:115698400-115714000	Weak transcription	Right Ventricle	heart
7	chr5:115706000-115724400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:115706800-115723200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:115707200-115717000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:115707400-115714400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:115707400-115717200	Weak transcription	Primary T cells from cord blood	blood
12	chr5:115707400-115722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:115707600-115748400	Weak transcription	Fetal Intestine Large	intestine
14	chr5:115708200-115714600	Enhancers	Psoas Muscle	Psoas
15	chr5:115708200-115717400	Weak transcription	HUVEC	blood vessel
16	chr5:115708400-115722400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:115708600-115718000	Weak transcription	Fetal Intestine Small	intestine
18	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:115708800-115720000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:115708800-115722400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:115709400-115722800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:115710400-115714000	Weak transcription	Esophagus	oesophagus
23	chr5:115710400-115718000	Weak transcription	Spleen	Spleen
24	chr5:115710800-115717000	Weak transcription	Adipose Nuclei	Adipose
25	chr5:115710800-115717800	Enhancers	Fetal Muscle Leg	muscle
26	chr5:115711200-115717600	Weak transcription	Primary B cells from cord blood	blood
27	chr5:115711600-115714800	Enhancers	Brain Anterior Caudate	brain
28	chr5:115711600-115714800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:115711600-115715200	Enhancers	Fetal Muscle Trunk	muscle
30	chr5:115711800-115718600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:115711800-115730600	Weak transcription	Gastric	stomach
32	chr5:115712000-115722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:115712200-115714400	Enhancers	Brain Angular Gyrus	brain
34	chr5:115712400-115717000	Weak transcription	Left Ventricle	heart
35	chr5:115712600-115714400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:115712600-115714600	Enhancers	Brain Cingulate Gyrus	brain
37	chr5:115713000-115714600	Enhancers	Brain Hippocampus Middle	brain
38	chr5:115713200-115714000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:115713200-115714000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:115713200-115714400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:115713200-115714400	Enhancers	Brain Substantia Nigra	brain
42	chr5:115713400-115714600	Enhancers	Lung	lung
43	chr5:115713400-115714600	Enhancers	HSMM	muscle
44	chr5:115713400-115714800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:115713400-115715600	Enhancers	Fetal Kidney	kidney
46	chr5:115713400-115717800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:115713400-115719200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:115713600-115713800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:115713600-115714000	Weak transcription	Right Atrium	heart
50	chr5:115713600-115714400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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