Variant report

Variant	rs4630983
Chromosome Location	chr3:155140465-155140466
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:155138815..155140992-chr3:155141903..155144535,2	MCF-7	breast:
2	chr3:155130485..155132215-chr3:155138611..155141364,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11918635	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11925808	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928539	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16824965	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16824986	1.00[ASN][1000 genomes]
rs16824992	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16825048	1.00[CEU][hapmap]
rs28503947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28742885	0.90[EUR][1000 genomes]
rs34828234	1.00[ASN][1000 genomes]
rs4302412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4352412	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4352413	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392458	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57461710	1.00[ASN][1000 genomes]
rs57825069	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57985049	1.00[ASN][1000 genomes]
rs58523386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440982	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440983	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440984	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764943	1.00[CEU][hapmap]
rs6772219	0.92[YRI][hapmap];0.97[AFR][1000 genomes]
rs6777732	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782818	0.81[AFR][1000 genomes]
rs6786372	0.83[AFR][1000 genomes]
rs6791188	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6791222	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6802130	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6802336	0.85[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805227	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73009792	1.00[ASN][1000 genomes]
rs73011512	1.00[ASN][1000 genomes]
rs73011513	1.00[ASN][1000 genomes]
rs73011515	1.00[ASN][1000 genomes]
rs73011525	1.00[ASN][1000 genomes]
rs73873187	1.00[ASN][1000 genomes]
rs7637223	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];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	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1000753	chr3:154848433-155207022	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv536773	chr3:154848433-155207022	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv877679	chr3:155128968-155204939	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155136000-155141400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:155136400-155141200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:155136600-155141600	Weak transcription	Fetal Brain Male	brain
4	chr3:155136600-155141800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:155136600-155142400	Weak transcription	Fetal Brain Female	brain
6	chr3:155136800-155141800	Weak transcription	Brain Germinal Matrix	brain
7	chr3:155137000-155141400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:155138000-155141000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:155138400-155141000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:155138600-155140600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:155138800-155140600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:155138800-155140600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:155139200-155141400	Weak transcription	Fetal Thymus	thymus
14	chr3:155139200-155141600	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:155139600-155141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:155139600-155141600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:155139600-155143200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:155139800-155141600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:155139800-155141800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:155139800-155141800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:155140000-155141800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:155140200-155141600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:155140200-155141600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:155140400-155141400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:155140400-155141800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:155140400-155141800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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