Variant report

Variant	rs6714620
Chromosome Location	chr2:128557793-128557794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:128557628-128557808	GM12891	blood:	n/a	n/a
2	EBF1	chr2:128557529-128557889	GM12878	blood:	n/a	chr2:128557730-128557741
3	EBF1	chr2:128557504-128557974	GM12878	blood:	n/a	chr2:128557730-128557741
4	SPI1	chr2:128557629-128557873	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:128554727..128558229-chr2:128567374..128570670,4	MCF-7	breast:
2	chr2:128556228..128557835-chr2:128568202..128570289,2	K562	blood:
3	chr2:128555142..128559224-chr2:128564201..128571074,7	MCF-7	breast:

Variant related genes	Relation type
RNY4P7	TF binding region
ENSG00000136709	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10171898	1.00[ASN][1000 genomes]
rs10210695	1.00[ASN][1000 genomes]
rs11557685	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674513	1.00[ASN][1000 genomes]
rs11678032	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11682274	1.00[CEU][hapmap]
rs11692524	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11693759	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13397060	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13421835	0.81[ASN][1000 genomes]
rs13423029	0.81[ASN][1000 genomes]
rs17418125	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534053	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534123	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599575	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600177	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771291	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56954978	1.00[ASN][1000 genomes]
rs57410763	0.86[ASN][1000 genomes]
rs57498556	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57913162	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57986825	1.00[ASN][1000 genomes]
rs58080260	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59009188	0.86[ASN][1000 genomes]
rs59090605	1.00[ASN][1000 genomes]
rs59727076	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918187	0.81[ASN][1000 genomes]
rs60087786	1.00[ASN][1000 genomes]
rs61187878	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730415	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734925	1.00[ASN][1000 genomes]
rs6756507	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72963794	1.00[ASN][1000 genomes]
rs7560482	0.81[ASN][1000 genomes]
rs7574303	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7575961	1.00[CEU][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]
rs7585200	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591477	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605158	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6714620	WDR33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128479400-128560400	Weak transcription	Esophagus	oesophagus
2	chr2:128498200-128562800	Weak transcription	Pancreas	Pancrea
3	chr2:128522600-128565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:128522600-128567400	Weak transcription	Aorta	Aorta
5	chr2:128522800-128564200	Weak transcription	Small Intestine	intestine
6	chr2:128527600-128563000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:128527800-128564200	Weak transcription	Fetal Lung	lung
8	chr2:128528000-128567000	Weak transcription	Placenta	Placenta
9	chr2:128529000-128558400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:128529000-128563000	Weak transcription	Hela-S3	cervix
11	chr2:128529200-128563000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:128529200-128563800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:128529200-128564400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:128529400-128558200	Weak transcription	HSMM	muscle
15	chr2:128529400-128558600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:128529400-128567200	Weak transcription	NHDF-Ad	bronchial
17	chr2:128529600-128564800	Weak transcription	HMEC	breast
18	chr2:128531600-128558600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:128531600-128562400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:128534200-128565400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:128534800-128563200	Weak transcription	Brain Anterior Caudate	brain
22	chr2:128534800-128566800	Weak transcription	Brain Substantia Nigra	brain
23	chr2:128534800-128567200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:128535400-128567200	Weak transcription	Fetal Kidney	kidney
25	chr2:128535600-128558400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:128538800-128558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:128542200-128565800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:128543400-128564200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:128543600-128562000	Weak transcription	A549	lung
30	chr2:128543800-128563000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:128543800-128563800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:128544000-128560400	Weak transcription	Lung	lung
33	chr2:128544000-128562600	Weak transcription	Psoas Muscle	Psoas
34	chr2:128544000-128565000	Weak transcription	K562	blood
35	chr2:128544200-128564000	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:128544200-128565000	Weak transcription	Gastric	stomach
37	chr2:128544200-128567000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:128547400-128567200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:128548200-128564400	Weak transcription	Fetal Brain Female	brain
40	chr2:128548400-128564400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:128548400-128567800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:128549200-128563200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:128549200-128564000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:128549200-128564000	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:128549200-128564200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:128549200-128564400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:128549200-128564400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:128549200-128565000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:128549200-128567200	Weak transcription	Brain Angular Gyrus	brain
50	chr2:128549200-128567800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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