Variant report

Variant	rs7030221
Chromosome Location	chr9:2635116-2635117
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2619846..2622881-chr9:2631771..2635491,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147852	Chromatin interaction
ENSG00000236404	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10812379	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11788728	1.00[ASN][1000 genomes]
rs11789583	1.00[ASN][1000 genomes]
rs11790283	1.00[ASN][1000 genomes]
rs11791537	1.00[ASN][1000 genomes]
rs11793899	1.00[ASN][1000 genomes]
rs11793901	1.00[ASN][1000 genomes]
rs13283954	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567712	1.00[ASN][1000 genomes]
rs17656379	1.00[ASN][1000 genomes]
rs17712698	1.00[ASN][1000 genomes]
rs1869593	1.00[ASN][1000 genomes]
rs1947447	1.00[ASN][1000 genomes]
rs2889261	1.00[ASN][1000 genomes]
rs33955077	1.00[ASN][1000 genomes]
rs33984475	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34318472	1.00[ASN][1000 genomes]
rs34562568	1.00[ASN][1000 genomes]
rs35033160	1.00[ASN][1000 genomes]
rs35043989	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35075133	1.00[ASN][1000 genomes]
rs35456336	1.00[ASN][1000 genomes]
rs35730767	1.00[ASN][1000 genomes]
rs35769682	1.00[ASN][1000 genomes]
rs35847091	1.00[ASN][1000 genomes]
rs36036004	1.00[ASN][1000 genomes]
rs6144	1.00[ASN][1000 genomes]
rs6145	1.00[ASN][1000 genomes]
rs6148	1.00[ASN][1000 genomes]
rs6475888	1.00[ASN][1000 genomes]
rs7035616	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs7040916	1.00[ASN][1000 genomes]
rs7044107	0.87[CEU][hapmap]
rs7045124	1.00[ASN][1000 genomes]
rs7045363	1.00[ASN][1000 genomes]
rs72692565	1.00[ASN][1000 genomes]
rs72692571	1.00[ASN][1000 genomes]
rs72692574	1.00[ASN][1000 genomes]
rs72692579	1.00[ASN][1000 genomes]
rs72692580	1.00[ASN][1000 genomes]
rs72694628	1.00[ASN][1000 genomes]
rs8210	1.00[ASN][1000 genomes]
rs970122	1.00[ASN][1000 genomes]
rs970123	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv529508	chr9:2267812-2684272	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv531564	chr9:2452325-2700375	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2623800-2641000	Weak transcription	Esophagus	oesophagus
2	chr9:2624000-2636000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:2624200-2635200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:2624200-2635200	Enhancers	Fetal Heart	heart
5	chr9:2624200-2635600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:2624200-2636000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:2624200-2641000	Weak transcription	Aorta	Aorta
8	chr9:2624400-2641200	Weak transcription	Fetal Kidney	kidney
9	chr9:2624400-2643000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:2624400-2643200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:2624800-2636000	Weak transcription	A549	lung
12	chr9:2625000-2641000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:2627200-2648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr9:2630600-2638000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:2630600-2639800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:2630600-2641000	Weak transcription	Gastric	stomach
17	chr9:2630600-2641200	Weak transcription	Lung	lung
18	chr9:2632000-2635600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:2632200-2635200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:2632600-2635600	Enhancers	Brain Angular Gyrus	brain
21	chr9:2632600-2635800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:2632800-2635400	Enhancers	Adipose Nuclei	Adipose
23	chr9:2633000-2635200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:2633000-2635400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:2633000-2635600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:2633000-2639800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:2633200-2635400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:2633200-2635400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:2633200-2643200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:2633200-2646000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:2633400-2635400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:2633400-2640000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr9:2633600-2635200	Enhancers	Left Ventricle	heart
34	chr9:2633600-2656600	Weak transcription	Colon Smooth Muscle	Colon
35	chr9:2633800-2635200	Enhancers	Fetal Stomach	stomach
36	chr9:2634000-2643000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:2634000-2645000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr9:2634200-2645400	Weak transcription	HSMMtube	muscle
39	chr9:2634400-2635200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:2634400-2635200	Weak transcription	Stomach Mucosa	stomach
41	chr9:2634400-2638600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:2634400-2639400	Weak transcription	Fetal Brain Male	brain
43	chr9:2634400-2639800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:2634400-2641000	Weak transcription	Right Ventricle	heart
45	chr9:2634400-2648200	Weak transcription	Placenta	Placenta
46	chr9:2634600-2635200	Enhancers	Brain Substantia Nigra	brain
47	chr9:2634600-2635400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr9:2634600-2635400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr9:2634600-2635400	Enhancers	Fetal Muscle Leg	muscle
50	chr9:2634600-2635800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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