Variant report

Variant	rs1353979
Chromosome Location	chr5:36744574-36744575
allele	C/G
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36744540..36745365-chr5:36870089..36871235,6	MCF-7	breast:
2	chr5:36744217..36747059-chr5:36749428..36753398,8	MCF-7	breast:
3	chr5:36732120..36732892-chr5:36744110..36745030,3	MCF-7	breast:
4	chr5:36744502..36747047-chr5:36751959..36755394,3	MCF-7	breast:
5	chr5:36744297..36746833-chr5:36748799..36751172,2	K562	blood:
6	chr5:36743708..36745991-chr5:36870504..36872039,2	K562	blood:
7	chr5:36731899..36747051-chr5:36866466..36880074,35	MCF-7	breast:
8	chr5:36743938..36745907-chr5:36986468..36988860,2	MCF-7	breast:
9	chr5:36735155..36740108-chr5:36743022..36746397,5	MCF-7	breast:
10	chr5:36743280..36745577-chr9:35070829..35072757,2	MCF-7	breast:
11	chr5:36743974..36745923-chr5:36784208..36786489,2	MCF-7	breast:
12	chr5:36743855..36746677-chr5:36948839..36952257,4	MCF-7	breast:
13	chr5:36737510..36747021-chr5:36869125..36879786,23	MCF-7	breast:
14	chr5:36743906..36746722-chr5:37004914..37007847,3	MCF-7	breast:
15	chr5:36744407..36745358-chr5:36944478..36945301,2	MCF-7	breast:
16	chr5:36744352..36746583-chr5:36857576..36860969,4	MCF-7	breast:
17	chr5:36743568..36746318-chr5:37004430..37006314,2	MCF-7	breast:
18	chr5:36741088..36745086-chr5:36779316..36782970,3	MCF-7	breast:
19	chr5:36742942..36746857-chr5:36753585..36757067,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165280	Chromatin interaction
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12515509	0.80[ASN][1000 genomes]
rs12523343	0.80[ASN][1000 genomes]
rs12656508	0.85[YRI][hapmap]
rs1466861	0.80[ASN][1000 genomes]
rs1995280	0.80[ASN][1000 genomes]
rs2133787	0.93[ASN][1000 genomes]
rs36677	0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs42913	0.81[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4869489	0.93[ASN][1000 genomes]
rs62356379	0.99[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6886577	0.87[ASN][1000 genomes]
rs7702263	0.80[ASN][1000 genomes]
rs7714979	0.80[ASN][1000 genomes]
rs7715550	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36743800-36744600	Flanking Active TSS	Fetal Kidney	kidney
2	chr5:36743800-36744600	Enhancers	Fetal Thymus	thymus
3	chr5:36743800-36744600	Flanking Active TSS	HMEC	breast
4	chr5:36744000-36744600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
5	chr5:36744000-36744600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:36744000-36744600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:36744000-36744600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:36744000-36744600	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr5:36744000-36744600	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr5:36744000-36744600	Flanking Active TSS	Fetal Heart	heart
11	chr5:36744000-36744600	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr5:36744000-36744600	Enhancers	Gastric	stomach
13	chr5:36744000-36744600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr5:36744000-36744600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr5:36744000-36744600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr5:36744000-36744600	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr5:36744000-36744600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
18	chr5:36744000-36744800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr5:36744000-36745000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr5:36744000-36745800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:36744000-36745800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:36744000-36745800	ZNF genes & repeats	Right Atrium	heart
23	chr5:36744000-36746000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr5:36744000-36746000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:36744200-36744600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr5:36744200-36744600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:36744200-36744600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr5:36744200-36744600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr5:36744200-36744600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:36744200-36744600	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:36744200-36744600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr5:36744200-36744600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:36744200-36744600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr5:36744200-36744600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:36744200-36744600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:36744200-36744600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:36744200-36744600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr5:36744200-36744600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr5:36744200-36744600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:36744200-36744600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr5:36744200-36744600	Enhancers	Lung	lung
42	chr5:36744200-36744600	Enhancers	Psoas Muscle	Psoas
43	chr5:36744200-36744600	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr5:36744200-36744600	Flanking Active TSS	Stomach Mucosa	stomach
45	chr5:36744200-36744600	Flanking Active TSS	HSMM	muscle
46	chr5:36744200-36744600	Flanking Active TSS	HSMMtube	muscle
47	chr5:36744200-36744600	Flanking Active TSS	NHLF	lung
48	chr5:36744200-36744800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:36744200-36744800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:36744200-36744800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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