Variant report

Variant	rs35699711
Chromosome Location	chr5:61645870-61645871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61601204..61604053-chr5:61644459..61647400,2	MCF-7	breast:
2	chr5:61637038..61639616-chr5:61644276..61647073,2	MCF-7	breast:
3	chr5:61645079..61646734-chr5:61646742..61649036,2	K562	blood:
4	chr5:61645558..61647477-chr5:61657497..61659462,2	K562	blood:

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1108158	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11740652	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742167	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11747516	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13156073	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13156695	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161789	0.87[AMR][1000 genomes]
rs13162519	0.87[AMR][1000 genomes]
rs13163533	0.83[EUR][1000 genomes]
rs13169321	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13170425	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13174779	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176923	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13178729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13181377	0.87[AMR][1000 genomes]
rs13189446	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13190153	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs153864	0.84[ASN][1000 genomes]
rs16875037	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890613	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16890618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890628	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890634	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059162	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2063255	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2272291	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs246198	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27090	0.80[ASN][1000 genomes]
rs34220654	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596001	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35054	0.82[EUR][1000 genomes]
rs35055	0.82[EUR][1000 genomes]
rs35238667	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311093	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35572300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672643	0.87[AMR][1000 genomes]
rs35744020	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35746052	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35794032	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35808056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35815430	0.96[EUR][1000 genomes]
rs35842742	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36105063	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3776612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822487	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs417822	0.82[EUR][1000 genomes]
rs4289514	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71617425	0.87[AMR][1000 genomes]
rs71617426	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs71617427	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71617428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71617429	0.84[EUR][1000 genomes]
rs7446543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971965	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
2	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
3	chr5:61607800-61669400	Weak transcription	NHLF	lung
4	chr5:61610200-61658600	Weak transcription	Ovary	ovary
5	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:61615600-61658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:61618200-61647800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:61618400-61658600	Weak transcription	Hela-S3	cervix
9	chr5:61622400-61676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:61622600-61658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:61623000-61646200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:61623800-61658600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:61624000-61669600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:61625400-61646200	Weak transcription	Adipose Nuclei	Adipose
15	chr5:61628800-61652000	Weak transcription	Fetal Brain Female	brain
16	chr5:61629200-61676400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:61629600-61665000	Weak transcription	Esophagus	oesophagus
18	chr5:61629800-61659400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:61630200-61646000	Weak transcription	Fetal Brain Male	brain
20	chr5:61631000-61658400	Weak transcription	Colonic Mucosa	Colon
21	chr5:61631200-61646000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:61631200-61646200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:61631200-61646200	Weak transcription	Spleen	Spleen
24	chr5:61631200-61658800	Weak transcription	Pancreas	Pancrea
25	chr5:61631200-61669400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:61631200-61669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:61631200-61676000	Weak transcription	Lung	lung
28	chr5:61631400-61646000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:61631400-61646000	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:61631400-61646200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:61631400-61646200	Weak transcription	Fetal Stomach	stomach
32	chr5:61631400-61648400	Weak transcription	Liver	Liver
33	chr5:61631400-61660000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:61632400-61650400	Weak transcription	A549	lung
35	chr5:61635000-61650600	Weak transcription	Brain Germinal Matrix	brain
36	chr5:61635200-61648400	Weak transcription	NH-A	brain
37	chr5:61635200-61651800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:61637000-61649600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:61637800-61648400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:61638200-61646200	Weak transcription	Left Ventricle	heart
41	chr5:61638200-61646200	Weak transcription	Thymus	Thymus
42	chr5:61638600-61671200	Weak transcription	Small Intestine	intestine
43	chr5:61639600-61647200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:61639600-61658600	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:61639800-61646000	Weak transcription	Primary T cells from cord blood	blood
46	chr5:61639800-61651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:61639800-61684200	Weak transcription	Psoas Muscle	Psoas
48	chr5:61641200-61657200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:61641400-61658600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:61641400-61682400	Weak transcription	Fetal Heart	heart

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