Variant report

Variant	rs4678631
Chromosome Location	chr3:34056403-34056404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:34052201..34055460-chr3:34055537..34058083,3	K562	blood:
2	chr3:34054517..34056618-chr3:34062771..34065562,2	MCF-7	breast:
3	chr3:33924589..33926494-chr3:34055813..34057902,15	K562	blood:
4	chr3:33941923..33944394-chr3:34054681..34056546,2	K562	blood:
5	chr3:33942894..33944735-chr3:34054416..34056546,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10212395	0.91[ASN][1000 genomes]
rs10440105	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10780020	0.93[ASN][1000 genomes]
rs10865851	0.93[ASN][1000 genomes]
rs1109973	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11707844	0.91[ASN][1000 genomes]
rs11924658	0.88[ASN][1000 genomes]
rs12715234	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881938	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4045199	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4075756	1.00[ASN][1000 genomes]
rs4234228	0.91[ASN][1000 genomes]
rs4234229	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4234230	0.91[ASN][1000 genomes]
rs4270459	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4293663	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4355233	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4374481	0.85[EUR][1000 genomes]
rs4377444	0.95[ASN][1000 genomes]
rs4411835	0.95[ASN][1000 genomes]
rs4525815	0.93[ASN][1000 genomes]
rs4530479	0.95[ASN][1000 genomes]
rs4550783	0.95[ASN][1000 genomes]
rs4599247	0.82[AMR][1000 genomes]
rs4678628	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6550241	0.93[ASN][1000 genomes]
rs6763221	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6766292	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6776036	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6782895	0.93[ASN][1000 genomes]
rs9817642	0.95[ASN][1000 genomes]
rs9819006	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823050	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9843038	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9845173	0.95[ASN][1000 genomes]
rs9866710	0.93[ASN][1000 genomes]
rs9868204	0.95[ASN][1000 genomes]
rs9870373	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9871398	0.95[ASN][1000 genomes]
rs9875057	0.95[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	nsv522881	chr3:33736126-34241686	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34050000-34056800	Weak transcription	Thymus	Thymus
2	chr3:34051400-34057400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:34053800-34057600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:34054000-34056800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:34054000-34058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:34054000-34059600	Enhancers	Fetal Brain Male	brain
7	chr3:34054200-34056800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:34054400-34057600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:34054400-34057600	Weak transcription	HMEC	breast
10	chr3:34054400-34058200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:34054400-34058200	Weak transcription	NHEK	skin
12	chr3:34054400-34058400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:34054600-34058400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:34055400-34058400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:34055400-34058400	Weak transcription	NHDF-Ad	bronchial
16	chr3:34055600-34058600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:34055600-34075000	Weak transcription	K562	blood
18	chr3:34055800-34056800	Enhancers	A549	lung
19	chr3:34056000-34058200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:34056200-34056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:34056200-34056600	Weak transcription	HepG2	liver
22	chr3:34056400-34056800	Weak transcription	Fetal Brain Female	brain

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