Variant report

Variant	rs1032859
Chromosome Location	chr5:118641300-118641301
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118604371..118606788-chr5:118640818..118642448,2	K562	blood:
2	chr5:118622873..118625111-chr5:118638258..118641948,4	MCF-7	breast:
3	chr5:118604371..118606578-chr5:118640818..118642432,2	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10035514	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10063063	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035376	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504980	0.93[EUR][1000 genomes]
rs2112323	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876958	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879919	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888768	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs888772	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Heschl's gyrus morphology	25130324	GWAS catalog

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118635400-118643800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:118635800-118641400	Enhancers	Thymus	Thymus
3	chr5:118636000-118641400	Enhancers	NHEK	skin
4	chr5:118636000-118641800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:118636200-118644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr5:118636400-118644200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:118636600-118641400	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:118636800-118641800	Enhancers	HMEC	breast
10	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:118639200-118641400	Weak transcription	Esophagus	oesophagus
13	chr5:118639200-118641600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:118639200-118642000	Enhancers	Hela-S3	cervix
15	chr5:118639200-118643600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:118639200-118643800	Weak transcription	Small Intestine	intestine
17	chr5:118639200-118644000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:118639200-118644200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:118639200-118644200	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:118639200-118645800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:118639200-118649600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:118639200-118657200	Weak transcription	Lung	lung
23	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:118639400-118641400	Enhancers	Osteobl	bone
25	chr5:118639400-118641600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:118639400-118641600	Weak transcription	Gastric	stomach
27	chr5:118639400-118644600	Weak transcription	HSMMtube	muscle
28	chr5:118639400-118646000	Weak transcription	Fetal Stomach	stomach
29	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
30	chr5:118639600-118641400	Enhancers	HepG2	liver
31	chr5:118639600-118643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:118639600-118643800	Enhancers	Primary T cells from cord blood	blood
33	chr5:118639600-118644000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:118640000-118642400	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr5:118640200-118641400	Weak transcription	Pancreas	Pancrea
37	chr5:118640200-118642400	Genic enhancers	Primary B cells from cord blood	blood
38	chr5:118640200-118643400	Weak transcription	Fetal Lung	lung
39	chr5:118640200-118644000	Weak transcription	Placenta	Placenta
40	chr5:118640200-118645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:118640400-118641600	Enhancers	HUVEC	blood vessel
42	chr5:118640400-118641800	Enhancers	A549	lung
43	chr5:118640400-118642800	Enhancers	Fetal Thymus	thymus
44	chr5:118640400-118642800	Weak transcription	GM12878-XiMat	blood
45	chr5:118640400-118643200	Weak transcription	Fetal Heart	heart
46	chr5:118640400-118643600	Weak transcription	Adipose Nuclei	Adipose
47	chr5:118640400-118644000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:118640400-118644200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr5:118640400-118644200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:118640400-118644200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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