Variant report

Variant	rs7858813
Chromosome Location	chr9:95955365-95955366
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	chr9:95940191..95941872-chr9:95953467..95956226,2	K562	blood:
2	chr9:95953204..95955785-chr9:96063844..96066566,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10761197	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10821081	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1539669	0.80[CEU][hapmap]
rs2398818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2398821	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4743899	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4743902	0.80[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4743903	1.00[AFR][1000 genomes]
rs4744182	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4744184	0.84[AMR][1000 genomes]
rs6479461	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6479464	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7039424	1.00[AFR][1000 genomes]
rs7041800	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs7045686	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7866375	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv824983	chr9:95902154-95978408	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv614880	chr9:95930572-95978265	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95948200-95958400	Weak transcription	Lung	lung
2	chr9:95948800-95955800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:95949200-95955800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:95949600-95955600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:95950000-95960800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:95950800-95967400	Enhancers	Fetal Heart	heart
7	chr9:95951600-95955400	Weak transcription	Brain Anterior Caudate	brain
8	chr9:95951600-95955400	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:95951600-95955600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:95951600-95955800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:95951800-95956200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:95953400-95957600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr9:95953800-95956800	Enhancers	Right Ventricle	heart
14	chr9:95954400-95956400	Enhancers	Pancreas	Pancrea
15	chr9:95954400-95957200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr9:95954400-95957400	Enhancers	Fetal Brain Male	brain
17	chr9:95954600-95955600	Enhancers	Brain Germinal Matrix	brain
18	chr9:95954600-95955800	Enhancers	Fetal Thymus	thymus
19	chr9:95954600-95955800	Enhancers	Spleen	Spleen
20	chr9:95954600-95956000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:95954600-95956000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr9:95954600-95957000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:95954600-95957200	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:95954600-95957200	Enhancers	Colon Smooth Muscle	Colon
25	chr9:95954600-95957200	Enhancers	Fetal Muscle Leg	muscle
26	chr9:95954600-95957200	Enhancers	Rectal Smooth Muscle	rectum
27	chr9:95954600-95961600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr9:95954800-95955800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:95954800-95955800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:95954800-95956000	Enhancers	Brain Angular Gyrus	brain
31	chr9:95954800-95956000	Enhancers	Esophagus	oesophagus
32	chr9:95954800-95956800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:95954800-95957400	Enhancers	Fetal Brain Female	brain
34	chr9:95954800-95959600	Enhancers	Duodenum Mucosa	Duodenum
35	chr9:95955000-95955400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr9:95955000-95955400	Genic enhancers	Fetal Intestine Small	intestine
37	chr9:95955000-95955400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr9:95955000-95955600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr9:95955000-95955600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr9:95955000-95955800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr9:95955000-95955800	Enhancers	HepG2	liver
42	chr9:95955000-95956000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr9:95955000-95956000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:95955000-95956000	Enhancers	Colonic Mucosa	Colon
45	chr9:95955000-95956000	Enhancers	Left Ventricle	heart
46	chr9:95955000-95956000	Enhancers	Psoas Muscle	Psoas
47	chr9:95955000-95956600	Enhancers	Fetal Intestine Large	intestine
48	chr9:95955000-95957400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr9:95955200-95955800	Enhancers	Right Atrium	heart
50	chr9:95955200-95956000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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