Variant report

Variant	rs7585200
Chromosome Location	chr2:128468369-128468370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128463949..128466894-chr2:128467424..128470088,3	MCF-7	breast:
2	chr2:128463154..128466585-chr2:128467666..128470142,6	K562	blood:
3	chr2:128468155..128475493-chr2:128475660..128479860,9	MCF-7	breast:
4	chr2:128468198..128470637-chr2:128473485..128477312,3	K562	blood:

Extended variants
information (count: 49 )
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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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];0.81[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534053	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534123	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599575	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600177	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771291	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56954978	1.00[ASN][1000 genomes]
rs57410763	0.86[ASN][1000 genomes]
rs57498556	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57913162	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57986825	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58080260	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59009188	0.86[ASN][1000 genomes]
rs59090605	1.00[ASN][1000 genomes]
rs59727076	0.81[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]
rs61730415	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714620	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734925	1.00[ASN][1000 genomes]
rs6756507	1.00[ASN][1000 genomes]
rs72846244	0.82[AFR][1000 genomes]
rs72963794	1.00[ASN][1000 genomes]
rs7560482	0.81[ASN][1000 genomes]
rs7574303	0.81[ASN][1000 genomes]
rs7575961	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591477	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605158	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003004	chr2:128295320-128474326	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1006421	chr2:128299079-128473079	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv459252	chr2:128398840-128476484	Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
8	nsv583038	chr2:128398840-128476484	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
9	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
rs7585200	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	chr2:128460800-128468600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:128460800-128468800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:128461200-128468400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:128461200-128473400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:128461200-128474800	Strong transcription	Fetal Intestine Small	intestine
8	chr2:128461200-128476400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:128461200-128476800	Weak transcription	Small Intestine	intestine
10	chr2:128461200-128482800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:128461200-128485600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:128461400-128468600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr2:128461800-128472000	Strong transcription	Fetal Thymus	thymus
14	chr2:128461800-128473200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:128461800-128475000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:128462000-128468600	Strong transcription	Primary hematopoietic stem cells	blood
17	chr2:128462200-128468400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:128462200-128468400	Strong transcription	HepG2	liver
19	chr2:128462400-128468600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr2:128462400-128468600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:128462400-128468800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:128462600-128468400	Strong transcription	Brain Germinal Matrix	brain
23	chr2:128462600-128468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:128462600-128468600	Strong transcription	GM12878-XiMat	blood
25	chr2:128462600-128468800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:128462600-128469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:128462600-128477400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:128462800-128468400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:128462800-128468600	Strong transcription	Primary B cells from cord blood	blood
30	chr2:128462800-128468800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:128462800-128468800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:128462800-128469200	Strong transcription	Dnd41	blood
33	chr2:128463000-128468400	Strong transcription	Fetal Brain Female	brain
34	chr2:128463000-128468600	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr2:128463000-128468600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:128463000-128468600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr2:128463000-128468800	Strong transcription	Colon Smooth Muscle	Colon
38	chr2:128463000-128468800	Strong transcription	Fetal Intestine Large	intestine
39	chr2:128463000-128479400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:128463000-128480200	Strong transcription	Primary T cells from cord blood	blood
41	chr2:128463200-128468400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:128463200-128468400	Strong transcription	Colonic Mucosa	Colon
43	chr2:128463200-128468800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:128463200-128479400	Weak transcription	Stomach Mucosa	stomach
45	chr2:128463400-128468400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:128463400-128468400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:128463400-128468600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:128463400-128468600	Strong transcription	A549	lung
49	chr2:128463400-128484800	Strong transcription	Thymus	Thymus
50	chr2:128463600-128468400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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