Variant report

Variant	rs3122635
Chromosome Location	chr1:197324195-197324196
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	chr1:197319425..197321252-chr1:197323446..197325972,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10801603	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12126335	0.83[ASN][1000 genomes]
rs1337167	0.87[AMR][1000 genomes]
rs1337168	0.87[AMR][1000 genomes]
rs17618358	0.83[ASN][1000 genomes]
rs2786098	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2786100	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2786101	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2786103	0.87[AMR][1000 genomes]
rs2786116	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2786117	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2786119	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2821107	0.86[ASN][1000 genomes]
rs2821115	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2821116	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2821117	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2821125	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3122636	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4915231	0.86[ASN][1000 genomes]
rs4915525	0.83[ASN][1000 genomes]
rs4915526	0.83[ASN][1000 genomes]
rs6428397	0.83[ASN][1000 genomes]
rs6664399	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7551088	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197316200-197329200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:197323800-197324200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:197323800-197324200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr1:197323800-197324200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
5	chr1:197323800-197324200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
6	chr1:197323800-197324200	Active TSS	HMEC	breast
7	chr1:197323800-197324200	Enhancers	Osteobl	bone
8	chr1:197324000-197324200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:197324000-197324200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr1:197324000-197324200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr1:197324000-197324200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr1:197324000-197324200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
13	chr1:197324000-197324200	Flanking Active TSS	HSMM	muscle
14	chr1:197324000-197324200	Genic enhancers	HSMMtube	muscle
15	chr1:197324000-197324200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
16	chr1:197324000-197324200	Flanking Bivalent TSS/Enh	K562	blood
17	chr1:197324000-197324200	Enhancers	NH-A	brain
18	chr1:197324000-197324200	Flanking Bivalent TSS/Enh	NHEK	skin
19	chr1:197324000-197324200	Flanking Bivalent TSS/Enh	NHLF	lung
20	chr1:197324000-197338800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:197324000-197347000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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