Variant report

Variant	rs7380307
Chromosome Location	chr5:14285971-14285972
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	chr5:14284680..14287380-chr5:14290475..14293181,2	K562	blood:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11743665	0.80[JPT][hapmap]
rs12659261	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs154150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs154153	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs154154	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs154155	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs164859	0.82[CHB][hapmap]
rs164860	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs164862	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs164863	0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs165083	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs165094	0.82[CHB][hapmap]
rs165095	0.90[JPT][hapmap]
rs16903326	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16903338	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2440982	0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs247142	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs30603	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs30604	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs30605	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs30618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs30621	0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs30626	0.85[ASN][1000 genomes]
rs30627	0.83[ASN][1000 genomes]
rs30628	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs30629	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs30630	0.86[ASN][1000 genomes]
rs30631	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs30634	0.80[ASN][1000 genomes]
rs30783	1.00[YRI][hapmap]
rs32549	0.80[JPT][hapmap]
rs354303	0.82[CHB][hapmap]
rs356026	0.85[ASN][1000 genomes]
rs356027	0.86[ASN][1000 genomes]
rs356028	0.83[ASN][1000 genomes]
rs356029	0.83[ASN][1000 genomes]
rs39857	1.00[YRI][hapmap]
rs42204	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs42253	0.83[ASN][1000 genomes]
rs42405	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs42551	0.83[CEU][hapmap];0.80[AMR][1000 genomes]
rs56226439	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67084079	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72744279	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7700787	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
4	chr5:14269200-14286400	Weak transcription	Pancreas	Pancrea
5	chr5:14269200-14286600	Weak transcription	Spleen	Spleen
6	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:14270400-14286400	Weak transcription	Fetal Intestine Small	intestine
8	chr5:14270400-14286800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:14270400-14288800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:14270400-14289400	Weak transcription	Gastric	stomach
11	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
14	chr5:14270800-14286800	Weak transcription	Fetal Brain Male	brain
15	chr5:14270800-14293000	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:14271000-14295800	Weak transcription	Brain Angular Gyrus	brain
17	chr5:14276800-14290800	Weak transcription	Esophagus	oesophagus
18	chr5:14277200-14291000	Weak transcription	Brain Anterior Caudate	brain
19	chr5:14277800-14286800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:14278600-14296200	Strong transcription	NH-A	brain
22	chr5:14279600-14295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:14279800-14287800	Enhancers	Fetal Heart	heart
24	chr5:14279800-14287800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr5:14279800-14293200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:14279800-14294600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:14280000-14286200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:14280000-14295000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:14280800-14286800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:14281000-14287000	Weak transcription	Placenta	Placenta
31	chr5:14281400-14286000	Weak transcription	NHEK	skin
32	chr5:14281400-14291000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:14281600-14286200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:14282000-14287400	Weak transcription	Fetal Intestine Large	intestine
35	chr5:14282200-14286200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:14282200-14286400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:14282200-14286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:14282200-14287200	Weak transcription	Lung	lung
39	chr5:14282200-14290000	Weak transcription	Fetal Thymus	thymus
40	chr5:14282400-14286600	Weak transcription	Adipose Nuclei	Adipose
41	chr5:14282400-14287000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:14282400-14293400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:14283000-14287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:14283200-14286200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:14283200-14286200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:14283400-14286800	Weak transcription	Liver	Liver
48	chr5:14283800-14286400	Weak transcription	HUVEC	blood vessel
49	chr5:14283800-14287000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr5:14284000-14286200	Weak transcription	Rectal Mucosa Donor 31	rectum

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