Variant report

Variant	rs1512341
Chromosome Location	chr4:149314347-149314348
allele	A/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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11724226	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12711260	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13109808	0.82[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13109933	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13112423	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13127625	0.86[AMR][1000 genomes]
rs13137655	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13144019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512325	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1512327	0.96[CEU][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2137331	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs6831212	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7696770	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs992556	0.90[AMR][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	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

No data

Chromatin state (count:22 , 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	chr4:149299000-149329000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:149299200-149318400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:149306200-149316600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:149307200-149314400	Weak transcription	Psoas Muscle	Psoas
7	chr4:149307200-149318200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:149307200-149318200	Weak transcription	Pancreas	Pancrea
9	chr4:149307400-149318200	Weak transcription	Ovary	ovary
10	chr4:149307600-149315000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:149307600-149316600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:149307600-149336600	Weak transcription	Aorta	Aorta
13	chr4:149309400-149320000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:149311800-149318200	Weak transcription	Stomach Mucosa	stomach
15	chr4:149312400-149318200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:149312800-149338800	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:149313200-149326400	Weak transcription	Fetal Intestine Small	intestine
18	chr4:149313800-149314600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:149313800-149314600	Weak transcription	Lung	lung
20	chr4:149313800-149316600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:149313800-149318200	Weak transcription	Right Atrium	heart
22	chr4:149314200-149315400	Enhancers	Left Ventricle	heart

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