Variant report

Variant	rs10071652
Chromosome Location	chr5:179474975-179474976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179474703..179477479-chr5:179497677..179500173,3	K562	blood:
2	chr5:179473631..179475664-chr5:179477740..179480217,2	K562	blood:
3	chr5:179474524..179477374-chr5:179479073..179481485,2	MCF-7	breast:
4	chr5:179474365..179476555-chr5:179490686..179492434,2	MCF-7	breast:
5	chr5:179474557..179476078-chr5:179480075..179482538,2	MCF-7	breast:
6	chr5:179469293..179473403-chr5:179473812..179477504,5	MCF-7	breast:
7	chr5:179452407..179455273-chr5:179474700..179476534,2	K562	blood:
8	chr5:179469780..179472209-chr5:179474467..179476576,2	K562	blood:
9	chr5:179474733..179479669-chr5:179495487..179500173,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10051632	0.82[AFR][1000 genomes]
rs10051694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10056316	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10056991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10059400	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10066845	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079029	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10464058	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11249663	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11249664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249666	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11739706	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11739898	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs11748441	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11750102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13435998	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17681274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278662	0.85[JPT][hapmap]
rs34585953	0.80[EUR][1000 genomes]
rs3776946	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3776948	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4235505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4264913	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700859	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4700864	0.84[CEU][hapmap];0.90[CHB][hapmap]
rs57008562	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57117216	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61356660	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62404970	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62404974	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62404976	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62404977	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62404979	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62405015	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6601077	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6601078	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6873317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6873639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6884565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898203	0.84[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap]
rs7729516	0.90[EUR][1000 genomes]
rs7734329	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9329095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv1024592	chr5:179443133-179510642	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179429800-179482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:179451200-179477200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:179461800-179483600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:179462800-179477000	Weak transcription	Colonic Mucosa	Colon
5	chr5:179463600-179475600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:179463800-179477000	Weak transcription	Small Intestine	intestine
7	chr5:179463800-179479200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:179463800-179482200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:179464400-179476800	Weak transcription	HepG2	liver
10	chr5:179464400-179477200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:179464800-179483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:179465200-179475800	Weak transcription	HSMMtube	muscle
13	chr5:179465400-179477200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:179465400-179484200	Weak transcription	Aorta	Aorta
15	chr5:179467400-179483200	Weak transcription	HSMM	muscle
16	chr5:179467800-179475800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:179467800-179479000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:179468200-179477400	Weak transcription	A549	lung
19	chr5:179468800-179475600	Weak transcription	Gastric	stomach
20	chr5:179469000-179477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:179470600-179475600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:179471000-179475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:179471200-179475400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:179471400-179476400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:179471800-179475800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:179472400-179475000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr5:179472400-179496600	Weak transcription	Stomach Mucosa	stomach
28	chr5:179472800-179475200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:179473200-179482000	Enhancers	Brain Substantia Nigra	brain
30	chr5:179473400-179478000	Enhancers	Brain Hippocampus Middle	brain
31	chr5:179473400-179481600	Enhancers	Brain Anterior Caudate	brain
32	chr5:179473600-179475200	Weak transcription	Fetal Brain Female	brain
33	chr5:179473600-179475600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:179473600-179477600	Enhancers	Colon Smooth Muscle	Colon
35	chr5:179473600-179478000	Enhancers	Adipose Nuclei	Adipose
36	chr5:179473600-179479000	Weak transcription	Spleen	Spleen
37	chr5:179473800-179475200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:179473800-179475400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:179473800-179475400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:179473800-179475800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:179473800-179475800	Weak transcription	Placenta	Placenta
42	chr5:179473800-179477200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:179473800-179477200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:179473800-179477200	Weak transcription	Brain Germinal Matrix	brain
45	chr5:179473800-179477400	Enhancers	Fetal Brain Male	brain
46	chr5:179473800-179484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:179473800-179488000	Weak transcription	Fetal Stomach	stomach
48	chr5:179474000-179475000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:179474000-179475000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:179474000-179475600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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