Variant report

Variant	rs4681617
Chromosome Location	chr3:150122569-150122570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
2	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
3	chr3:150108770..150111443-chr3:150121754..150123865,2	K562	blood:
4	chr3:150101805..150104730-chr3:150121434..150125041,3	K562	blood:

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10513373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10513374	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs10935800	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs11711035	0.82[ASN][1000 genomes]
rs11719977	0.81[ASN][1000 genomes]
rs12638309	0.84[ASN][1000 genomes]
rs12639090	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs13081231	0.84[ASN][1000 genomes]
rs13099758	0.80[ASN][1000 genomes]
rs13321876	0.84[ASN][1000 genomes]
rs16862627	0.95[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16862644	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862676	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4488863	0.84[ASN][1000 genomes]
rs4681203	0.84[ASN][1000 genomes]
rs4681204	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4681205	0.95[CHB][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4681206	0.82[ASN][1000 genomes]
rs4681207	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4681616	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4681618	0.83[ASN][1000 genomes]
rs58628422	0.84[ASN][1000 genomes]
rs59793956	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61483057	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67319423	0.84[ASN][1000 genomes]
rs6784048	0.84[ASN][1000 genomes]
rs6792734	0.82[ASN][1000 genomes]
rs6795124	0.82[ASN][1000 genomes]
rs73163692	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73165707	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9784335	0.82[ASN][1000 genomes]
rs9826729	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs9865031	0.85[ASN][1000 genomes]
rs9882777	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1818335	chr3:150122121-150128717	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150109200-150124400	Weak transcription	HSMM	muscle
3	chr3:150109200-150124600	Weak transcription	NHLF	lung
4	chr3:150115400-150123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:150117000-150125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:150117200-150125000	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:150117400-150125000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:150119600-150124600	Weak transcription	Fetal Intestine Large	intestine
9	chr3:150119600-150124600	Weak transcription	Fetal Intestine Small	intestine
10	chr3:150120200-150124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:150121400-150124800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:150121600-150123600	Weak transcription	A549	lung
13	chr3:150121600-150125200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:150121800-150124800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:150121800-150124800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:150121800-150124800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:150121800-150125000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:150122200-150123600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:150122200-150124200	Weak transcription	HSMMtube	muscle
20	chr3:150122200-150124400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:150122200-150124800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:150122200-150124800	Weak transcription	Hela-S3	cervix
23	chr3:150122200-150125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:150122200-150125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:150122400-150124400	Weak transcription	NHEK	skin
26	chr3:150122400-150124600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:150122400-150124600	Weak transcription	HMEC	breast
28	chr3:150122400-150124600	Weak transcription	NHDF-Ad	bronchial

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