Variant report

Variant	rs1922513
Chromosome Location	chr7:70814599-70814600
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	chr20:60969936..60971835-chr7:70814518..70816806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149679	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10230586	0.80[ASN][1000 genomes]
rs10265527	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10267524	0.80[ASN][1000 genomes]
rs10268327	0.80[ASN][1000 genomes]
rs10271589	0.80[ASN][1000 genomes]
rs10807731	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10950257	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950258	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11760210	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11768963	0.80[ASN][1000 genomes]
rs12154870	1.00[CEU][hapmap]
rs12154884	0.98[EUR][1000 genomes]
rs12155133	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12155139	0.99[EUR][1000 genomes]
rs12155491	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12155498	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12666581	0.89[EUR][1000 genomes]
rs12669906	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2091792	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2107796	1.00[ASN][1000 genomes]
rs2107797	0.80[ASN][1000 genomes]
rs2107798	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2107800	0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2158609	0.80[ASN][1000 genomes]
rs2527294	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2527308	0.80[ASN][1000 genomes]
rs2527314	0.80[ASN][1000 genomes]
rs2707432	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28392825	0.80[ASN][1000 genomes]
rs28588236	0.80[ASN][1000 genomes]
rs3973938	0.92[CEU][hapmap];0.98[EUR][1000 genomes]
rs4270841	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs4283926	0.84[EUR][1000 genomes]
rs4445102	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4584034	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4719110	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs4719111	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4719113	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4719114	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4719116	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460650	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs6460651	0.99[EUR][1000 genomes]
rs6460652	0.99[EUR][1000 genomes]
rs6460653	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6944999	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs6954049	0.92[EUR][1000 genomes]
rs6967666	0.85[EUR][1000 genomes]
rs6976592	0.99[EUR][1000 genomes]
rs7385083	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7776752	0.92[EUR][1000 genomes]
rs7787338	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787933	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7788793	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7791195	0.80[ASN][1000 genomes]
rs7797409	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9654908	0.80[ASN][1000 genomes]
rs9986885	0.96[EUR][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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70812400-70815400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:70812600-70814600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:70812600-70814600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:70812600-70814800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:70813200-70814600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr7:70813200-70814600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:70813400-70814600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:70813400-70814600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:70813400-70814800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:70813400-70814800	Enhancers	Fetal Muscle Leg	muscle
11	chr7:70813600-70814800	Enhancers	Fetal Brain Female	brain
12	chr7:70813600-70814800	Enhancers	Fetal Stomach	stomach
13	chr7:70813600-70815000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:70813800-70814600	Active TSS	Colon Smooth Muscle	Colon
15	chr7:70813800-70814600	Flanking Active TSS	Fetal Brain Male	brain
16	chr7:70813800-70814800	Active TSS	Stomach Smooth Muscle	stomach
17	chr7:70813800-70815000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:70813800-70815000	Enhancers	Fetal Heart	heart
19	chr7:70814000-70814600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr7:70814000-70814800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:70814000-70814800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:70814000-70814800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr7:70814000-70814800	Active TSS	Pancreas	Pancrea
24	chr7:70814200-70814600	Flanking Active TSS	Fetal Lung	lung
25	chr7:70814200-70814600	Active TSS	Ovary	ovary
26	chr7:70814200-70814800	Active TSS	Rectal Smooth Muscle	rectum
27	chr7:70814400-70814600	Enhancers	Fetal Kidney	kidney
28	chr7:70814400-70814800	Enhancers	Brain Germinal Matrix	brain
29	chr7:70814400-70815600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:70814400-70816200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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