Variant report

Variant	rs9991002
Chromosome Location	chr4:149311458-149311459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:149310101..149312108-chr4:149313600..149316381,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10001430	0.93[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10034882	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10519958	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1512329	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17484678	0.93[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17484811	0.93[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17581787	0.91[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17581884	0.93[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17581905	0.93[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17581947	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17581996	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28588362	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28621626	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28639664	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28648617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28698626	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4835516	1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56387992	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57419274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62333612	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62333616	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62333649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6831376	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72729968	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9631755	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9631756	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9993239	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9999121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv880246	chr4:149287807-149311728	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149292200-149315000	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:149297800-149350000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:149298400-149311600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:149299000-149329000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:149299200-149318400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:149306200-149316600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:149306600-149313600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:149307200-149314400	Weak transcription	Psoas Muscle	Psoas
9	chr4:149307200-149318200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:149307200-149318200	Weak transcription	Pancreas	Pancrea
11	chr4:149307400-149318200	Weak transcription	Ovary	ovary
12	chr4:149307600-149315000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:149307600-149316600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:149307600-149336600	Weak transcription	Aorta	Aorta
15	chr4:149309400-149320000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:149310600-149313600	Weak transcription	Left Ventricle	heart
17	chr4:149311000-149311600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:149311400-149311800	Enhancers	Duodenum Smooth Muscle	Duodenum

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