Variant report

Variant	rs152017
Chromosome Location	chr5:96021293-96021294
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	chr5:95995753..95999388-chr5:96019205..96022967,5	MCF-7	breast:
2	chr5:96007194..96009980-chr5:96020059..96021734,2	K562	blood:

Variant related genes	Relation type
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10067766	0.82[JPT][hapmap]
rs1421911	0.82[JPT][hapmap]
rs151835	0.82[JPT][hapmap]
rs151904	0.82[JPT][hapmap]
rs152005	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs152014	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs152020	0.88[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2351245	0.89[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs246109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26482	0.84[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs26483	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs26484	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs26485	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs26503	0.82[JPT][hapmap]
rs26504	0.82[JPT][hapmap]
rs28093	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs28104	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs31248	0.82[JPT][hapmap]
rs31249	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs31250	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4590196	0.82[JPT][hapmap]
rs6556937	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs6860934	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6897588	0.82[JPT][hapmap]
rs7704167	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7705824	0.82[JPT][hapmap]
rs7733671	0.84[CHB][hapmap];0.82[JPT][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	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs152017	CAST	Cis_1M	lymphoblastoid	RTeQTL
rs152017	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95999400-96038000	Weak transcription	Fetal Stomach	stomach
2	chr5:95999600-96026000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:95999600-96028200	Weak transcription	Aorta	Aorta
4	chr5:95999600-96037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:95999600-96038000	Weak transcription	Fetal Lung	lung
6	chr5:95999800-96022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:95999800-96024600	Weak transcription	Fetal Heart	heart
8	chr5:96000800-96037600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:96001600-96037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:96002400-96027800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:96002400-96037600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:96002400-96038200	Weak transcription	Esophagus	oesophagus
13	chr5:96003000-96022800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:96004800-96028200	Weak transcription	Lung	lung
15	chr5:96004800-96036600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:96005000-96038000	Weak transcription	Ovary	ovary
17	chr5:96005000-96038200	Weak transcription	Gastric	stomach
18	chr5:96005600-96021400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:96005600-96027800	Weak transcription	Left Ventricle	heart
20	chr5:96007400-96022200	Weak transcription	Right Ventricle	heart
21	chr5:96007400-96025400	Weak transcription	Pancreas	Pancrea
22	chr5:96007600-96027800	Weak transcription	Fetal Intestine Large	intestine
23	chr5:96009200-96037600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:96012000-96026400	Weak transcription	NHLF	lung
25	chr5:96012200-96021400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:96012200-96022800	Weak transcription	HUVEC	blood vessel
27	chr5:96012400-96023400	Weak transcription	Primary T cells from cord blood	blood
28	chr5:96013000-96037800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:96013400-96021800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:96013400-96022400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:96013600-96031400	Weak transcription	Stomach Mucosa	stomach
32	chr5:96013800-96022400	Weak transcription	Small Intestine	intestine
33	chr5:96013800-96037600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:96014000-96023200	Weak transcription	Liver	Liver
35	chr5:96014000-96030800	Weak transcription	HSMM	muscle
36	chr5:96014800-96027400	Weak transcription	Fetal Intestine Small	intestine
37	chr5:96015200-96023200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:96015400-96022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:96015400-96031800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:96016200-96031600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:96016600-96035200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:96016800-96021400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:96016800-96021400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:96016800-96022000	Weak transcription	Brain Substantia Nigra	brain
45	chr5:96016800-96023600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:96016800-96027200	Weak transcription	Adipose Nuclei	Adipose
47	chr5:96016800-96027200	Weak transcription	HSMMtube	muscle
48	chr5:96016800-96027800	Weak transcription	Right Atrium	heart
49	chr5:96016800-96035000	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:96016800-96038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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