Variant report

Variant	rs2059124
Chromosome Location	chr5:128448016-128448017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:128430676..128433007-chr5:128447278..128450183,2	K562	blood:
2	chr5:128435328..128437132-chr5:128446217..128448838,2	MCF-7	breast:
3	chr5:128446074..128449776-chr5:128450937..128454358,4	K562	blood:
4	chr5:128431785..128433968-chr5:128447561..128449547,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264563	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17163693	1.00[CHB][hapmap]
rs17163696	1.00[CHB][hapmap]
rs17163698	1.00[CHB][hapmap]
rs2304578	1.00[CHB][hapmap]
rs3734161	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3798118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59805230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59869508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61110228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235863	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882849	chr5:128446692-128501738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128431400-128450600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:128431400-128457400	Weak transcription	Lung	lung
3	chr5:128431600-128450400	Weak transcription	Placenta	Placenta
4	chr5:128431600-128450400	Weak transcription	HSMM	muscle
5	chr5:128431600-128454200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:128432200-128450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:128432200-128454600	Weak transcription	Aorta	Aorta
8	chr5:128432400-128450400	Weak transcription	Brain Angular Gyrus	brain
9	chr5:128433400-128453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:128434000-128448800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:128434000-128455600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:128434000-128458400	Weak transcription	Esophagus	oesophagus
13	chr5:128434400-128454200	Weak transcription	Colonic Mucosa	Colon
14	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:128435200-128450400	Weak transcription	HUVEC	blood vessel
17	chr5:128435200-128452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:128435200-128453000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
20	chr5:128435600-128453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:128439600-128456200	Weak transcription	Spleen	Spleen
22	chr5:128440000-128452800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:128440600-128452800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:128441800-128449000	Strong transcription	Fetal Intestine Large	intestine
25	chr5:128442200-128449000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr5:128442200-128451000	Strong transcription	Primary T cells from cord blood	blood
27	chr5:128442800-128450400	Weak transcription	Hela-S3	cervix
28	chr5:128442800-128451800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:128443000-128449400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:128443000-128459800	Weak transcription	Fetal Kidney	kidney
31	chr5:128443200-128450400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:128443200-128450800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:128443600-128450200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:128443600-128450400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:128443600-128454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:128443600-128454400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:128443800-128452600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:128444000-128448200	Weak transcription	HepG2	liver
39	chr5:128444000-128448200	Weak transcription	K562	blood
40	chr5:128444000-128448400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:128444000-128448400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:128444000-128450400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:128444000-128453600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:128444000-128453800	Weak transcription	Thymus	Thymus
45	chr5:128444000-128454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:128444000-128455000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:128444000-128460200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr5:128444000-128461600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:128444000-128461600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:128444000-128462000	Weak transcription	Primary hematopoietic stem cells	blood

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