Variant report

Variant	rs34351
Chromosome Location	chr5:74952861-74952862
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74952495..74954524-chr5:74962216..74966504,3	K562	blood:
2	chr5:74951852..74953716-chr5:74968580..74970630,2	K562	blood:
3	chr5:74950997..74952941-chr5:74954987..74957253,2	K562	blood:
4	chr5:74952495..74955459-chr5:74961686..74963716,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10066858	0.81[YRI][hapmap]
rs16872760	0.81[YRI][hapmap]
rs1862219	0.81[YRI][hapmap]
rs2193991	0.86[YRI][hapmap]
rs2216572	0.82[YRI][hapmap]
rs2303647	0.81[YRI][hapmap]
rs253391	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs253411	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs253412	0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs253414	0.89[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34358	0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34359	0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34360	0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34361	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40060	0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs42302	0.84[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6892146	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74945000-74962800	Weak transcription	Fetal Intestine Large	intestine
3	chr5:74948000-74959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:74951200-74953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:74952000-74953000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:74952000-74953000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:74952000-74953000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr5:74952000-74953000	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:74952200-74953000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:74952200-74953000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:74952200-74953000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:74952200-74953000	Active TSS	Adipose Nuclei	Adipose
13	chr5:74952200-74953000	Active TSS	Aorta	Aorta
14	chr5:74952200-74953000	Active TSS	Brain Angular Gyrus	brain
15	chr5:74952200-74953000	Active TSS	Brain Hippocampus Middle	brain
16	chr5:74952200-74953000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:74952200-74953000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr5:74952200-74953000	Active TSS	A549	lung
19	chr5:74952400-74953000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:74952400-74957800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:74952600-74953000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:74952600-74953000	Enhancers	Primary hematopoietic stem cells	blood
23	chr5:74952600-74953000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:74952600-74953000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr5:74952600-74964200	Weak transcription	Stomach Mucosa	stomach
26	chr5:74952800-74953000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:74952800-74953000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:74952800-74953000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:74952800-74953000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:74952800-74953000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:74952800-74953000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:74952800-74953000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:74952800-74953000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr5:74952800-74953000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr5:74952800-74953000	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr5:74952800-74953000	Enhancers	Colon Smooth Muscle	Colon
37	chr5:74952800-74953000	Enhancers	Fetal Kidney	kidney
38	chr5:74952800-74953000	Enhancers	Fetal Muscle Leg	muscle
39	chr5:74952800-74953000	Enhancers	Fetal Stomach	stomach
40	chr5:74952800-74953000	Enhancers	Rectal Smooth Muscle	rectum
41	chr5:74952800-74953000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr5:74952800-74953000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr5:74952800-74953000	Flanking Active TSS	HMEC	breast
44	chr5:74952800-74953000	Enhancers	NHDF-Ad	bronchial
45	chr5:74952800-74953000	Flanking Active TSS	NHEK	skin
46	chr5:74952800-74953000	Flanking Active TSS	Osteobl	bone
47	chr5:74952800-74955000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:74952800-74957200	Weak transcription	Brain Germinal Matrix	brain
49	chr5:74952800-74957400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:74952800-74957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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