Variant report

Variant	rs13355686
Chromosome Location	chr5:43621875-43621876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43483460..43485178-chr5:43620815..43623103,2	K562	blood:
2	chr5:43607312..43608856-chr5:43620931..43623361,2	K562	blood:
3	chr5:43556181..43558087-chr5:43620418..43622145,2	MCF-7	breast:
4	chr5:43613880..43616676-chr5:43619448..43622710,3	K562	blood:
5	chr5:43612438..43616044-chr5:43620469..43623646,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10044743	1.00[CHB][hapmap]
rs10052717	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10054154	1.00[ASN][1000 genomes]
rs10054206	1.00[ASN][1000 genomes]
rs10058837	1.00[ASN][1000 genomes]
rs10065095	1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs10472385	1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10473316	1.00[ASN][1000 genomes]
rs10473317	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13358229	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13360656	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13360905	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28629332	1.00[ASN][1000 genomes]
rs55912106	1.00[ASN][1000 genomes]
rs58623090	1.00[ASN][1000 genomes]
rs59661208	1.00[ASN][1000 genomes]
rs59750428	1.00[ASN][1000 genomes]
rs60376053	1.00[ASN][1000 genomes]
rs73751779	1.00[ASN][1000 genomes]
rs73751782	1.00[ASN][1000 genomes]
rs73751784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751785	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73751786	1.00[ASN][1000 genomes]
rs73751787	1.00[ASN][1000 genomes]
rs73751789	1.00[ASN][1000 genomes]
rs73751792	1.00[ASN][1000 genomes]
rs73751793	1.00[ASN][1000 genomes]
rs73751795	1.00[ASN][1000 genomes]
rs73751797	1.00[ASN][1000 genomes]
rs73751798	1.00[ASN][1000 genomes]
rs7701080	1.00[CHB][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7702908	1.00[ASN][1000 genomes]
rs7719138	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7732460	1.00[CHB][hapmap]
rs9292888	1.00[ASN][1000 genomes]
rs9292889	1.00[ASN][1000 genomes]
rs9654395	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS 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 lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604200-43631200	Weak transcription	A549	lung
2	chr5:43604400-43631200	Weak transcription	Pancreas	Pancrea
3	chr5:43604400-43635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
6	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:43604600-43624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
9	chr5:43604800-43630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:43604800-43630800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:43604800-43635400	Weak transcription	Gastric	stomach
12	chr5:43604800-43635400	Weak transcription	Spleen	Spleen
13	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:43605000-43631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:43605000-43631400	Weak transcription	Lung	lung
16	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
17	chr5:43605800-43625200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:43606400-43633600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:43607800-43624200	Strong transcription	Primary T cells from cord blood	blood
21	chr5:43607800-43628200	Weak transcription	Fetal Intestine Small	intestine
22	chr5:43608400-43624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:43608400-43633600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr5:43608400-43640600	Strong transcription	Dnd41	blood
25	chr5:43608600-43624200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:43608600-43624400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:43608600-43624600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:43608600-43624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:43608800-43624800	Strong transcription	Fetal Thymus	thymus
30	chr5:43610600-43627000	Weak transcription	Right Ventricle	heart
31	chr5:43610600-43632200	Weak transcription	NHLF	lung
32	chr5:43610800-43649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:43612400-43622600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:43612600-43622200	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:43612600-43622600	Weak transcription	Brain Angular Gyrus	brain
36	chr5:43612600-43649400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr5:43612800-43647400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:43613200-43635400	Weak transcription	Aorta	Aorta
39	chr5:43613400-43645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:43613800-43632600	Weak transcription	Ovary	ovary
41	chr5:43613800-43635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:43613800-43646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:43614000-43623000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:43614000-43623200	Weak transcription	Brain Substantia Nigra	brain
45	chr5:43614000-43635600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:43614000-43647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:43614200-43631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:43614800-43622000	Weak transcription	HSMMtube	muscle
49	chr5:43614800-43631200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:43615400-43624200	Strong transcription	Fetal Muscle Leg	muscle

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