Variant report

Variant	rs61730415
Chromosome Location	chr2:128477084-128477085
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128475414..128477244-chr2:128481677..128484271,4	K562	blood:
2	chr2:128458146..128460795-chr2:128475414..128478588,3	MCF-7	breast:
3	chr2:128475730..128478412-chr2:128497111..128498762,2	MCF-7	breast:
4	chr2:128457592..128460883-chr2:128471804..128479622,12	MCF-7	breast:
5	chr2:128470706..128473379-chr2:128476446..128477957,2	MCF-7	breast:
6	chr2:128468155..128475493-chr2:128475660..128479860,9	MCF-7	breast:
7	chr2:128474798..128481171-chr2:128482515..128488388,6	MCF-7	breast:
8	chr2:128464475..128466181-chr2:128476440..128478090,2	MCF-7	breast:
9	chr2:128473619..128477090-chr2:128481338..128484009,4	K562	blood:
10	chr2:128468198..128470637-chr2:128473485..128477312,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173349	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10171898	1.00[ASN][1000 genomes]
rs10210695	1.00[ASN][1000 genomes]
rs11557685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674513	1.00[ASN][1000 genomes]
rs11678032	1.00[ASN][1000 genomes]
rs11682274	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11692524	1.00[ASN][1000 genomes]
rs11693759	1.00[ASN][1000 genomes]
rs13397060	0.81[ASN][1000 genomes]
rs13421835	0.81[ASN][1000 genomes]
rs13423029	0.81[ASN][1000 genomes]
rs17418125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534053	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534123	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599575	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600177	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771291	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56954978	1.00[ASN][1000 genomes]
rs57410763	0.86[ASN][1000 genomes]
rs57498556	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57913162	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57986825	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58080260	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59009188	0.86[ASN][1000 genomes]
rs59090605	1.00[ASN][1000 genomes]
rs59727076	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918187	0.81[ASN][1000 genomes]
rs60087786	1.00[ASN][1000 genomes]
rs61187878	1.00[ASN][1000 genomes]
rs6714620	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734925	1.00[ASN][1000 genomes]
rs6756507	1.00[ASN][1000 genomes]
rs72846244	0.85[AFR][1000 genomes]
rs72963794	1.00[ASN][1000 genomes]
rs7560482	0.81[ASN][1000 genomes]
rs7574303	0.81[ASN][1000 genomes]
rs7575961	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585200	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591477	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605158	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004877	chr2:128299079-128479640	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv875015	chr2:128305196-128495645	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv428726	chr2:128387756-128539894	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv875030	chr2:128399414-128495645	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61730415	WDR33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128460400-128483000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:128460400-128520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:128461200-128482800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:128461200-128485600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:128462600-128477400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:128463000-128479400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:128463000-128480200	Strong transcription	Primary T cells from cord blood	blood
8	chr2:128463200-128479400	Weak transcription	Stomach Mucosa	stomach
9	chr2:128463400-128484800	Strong transcription	Thymus	Thymus
10	chr2:128466400-128481800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr2:128466400-128490200	Weak transcription	Right Atrium	heart
12	chr2:128466800-128477200	Weak transcription	Fetal Kidney	kidney
13	chr2:128466800-128479000	Weak transcription	Fetal Brain Male	brain
14	chr2:128468400-128477200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:128469600-128484400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:128469800-128482600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:128470000-128482800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:128470000-128483000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:128470000-128484600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:128471000-128480000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr2:128471000-128482600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:128471000-128482600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:128471200-128482600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:128471200-128482800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:128471200-128482800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:128471200-128484400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:128471600-128482800	Strong transcription	Primary B cells from cord blood	blood
28	chr2:128471800-128482800	Strong transcription	GM12878-XiMat	blood
29	chr2:128472800-128483000	Strong transcription	Fetal Thymus	thymus
30	chr2:128472800-128483000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:128473000-128478800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:128473000-128479200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr2:128473000-128479400	Strong transcription	HSMM	muscle
34	chr2:128473000-128480200	Strong transcription	Fetal Muscle Leg	muscle
35	chr2:128473000-128482400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:128473000-128482600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:128473000-128484000	Strong transcription	Dnd41	blood
38	chr2:128473200-128482400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:128473200-128482800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:128473400-128478600	Strong transcription	HMEC	breast
41	chr2:128473600-128482600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:128473600-128482800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:128473800-128481000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:128473800-128481200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:128473800-128482600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:128473800-128484600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:128474000-128480000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:128474000-128481000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:128474200-128481000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:128474200-128482200	Strong transcription	H1 Cell Line	embryonic stem cell

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