Variant report

Variant	rs9691642
Chromosome Location	chr7:70295022-70295023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70294117..70295302-chr7:71197788..71199575,6	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10225247	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10236937	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10255233	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10257067	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1106222	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11770601	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532235	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12667834	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13234362	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1358357	0.84[JPT][hapmap]
rs1527590	0.89[ASN][1000 genomes]
rs1590017	0.87[ASN][1000 genomes]
rs1918427	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1918429	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1997225	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2049631	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34964217	0.87[ASN][1000 genomes]
rs34988395	0.91[ASN][1000 genomes]
rs36121115	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4609095	0.87[ASN][1000 genomes]
rs58364947	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62459627	0.87[ASN][1000 genomes]
rs6460560	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460571	0.89[ASN][1000 genomes]
rs6969817	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6971253	0.87[ASN][1000 genomes]
rs6975412	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9690809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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
5	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv888341	chr7:70249358-70316365	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv429772	chr7:70250125-70357061	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv607437	chr7:70251651-70568354	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1031764	chr7:70271645-70420426	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1034508	chr7:70277984-70420426	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1019598	chr7:70285963-70358327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv429773	chr7:70285994-70357061	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3350369	chr7:70288094-70503884	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv429774	chr7:70294296-70357061	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70294000-70295200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:70294000-70296400	Enhancers	Liver	Liver
3	chr7:70294400-70295200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:70294400-70295400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:70294400-70295400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:70294400-70295400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:70294600-70295400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:70294600-70295400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:70294600-70295400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:70294800-70295200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:70294800-70295400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:70294800-70295400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:70294800-70295400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:70294800-70295400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr7:70294800-70295400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr7:70294800-70295600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:70294800-70295600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr7:70294800-70298600	Weak transcription	NHEK	skin
19	chr7:70294800-70298600	Weak transcription	Osteobl	bone
20	chr7:70295000-70295200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:70295000-70295200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:70295000-70295200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
23	chr7:70295000-70295200	Bivalent Enhancer	Dnd41	blood
24	chr7:70295000-70295200	Active TSS	HSMM	muscle
25	chr7:70295000-70295400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:70295000-70295600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:70295000-70295600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:70295000-70295600	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:70295000-70296600	Enhancers	HepG2	liver
30	chr7:70295000-70298400	Weak transcription	NH-A	brain
31	chr7:70295000-70298600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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