Variant report

Variant	rs7031721
Chromosome Location	chr9:95955986-95955987
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	chr9:95940191..95941872-chr9:95953467..95956226,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10992681	0.87[AMR][1000 genomes]
rs11787888	0.82[AMR][1000 genomes]
rs11790340	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11790795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11791377	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11791390	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11793893	0.88[CEU][hapmap]
rs11794044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34020099	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34085543	0.82[AMR][1000 genomes]
rs34739795	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34834050	0.82[AMR][1000 genomes]
rs35305079	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35438843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35712744	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36101213	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61275172	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7019910	0.83[AMR][1000 genomes]
rs7043649	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7046965	0.83[AMR][1000 genomes]
rs72743404	0.97[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95948200-95958400	Weak transcription	Lung	lung
2	chr9:95950000-95960800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:95950800-95967400	Enhancers	Fetal Heart	heart
4	chr9:95951800-95956200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:95953400-95957600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr9:95953800-95956800	Enhancers	Right Ventricle	heart
7	chr9:95954400-95956400	Enhancers	Pancreas	Pancrea
8	chr9:95954400-95957200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr9:95954400-95957400	Enhancers	Fetal Brain Male	brain
10	chr9:95954600-95956000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:95954600-95956000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr9:95954600-95957000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:95954600-95957200	Enhancers	Brain Cingulate Gyrus	brain
14	chr9:95954600-95957200	Enhancers	Colon Smooth Muscle	Colon
15	chr9:95954600-95957200	Enhancers	Fetal Muscle Leg	muscle
16	chr9:95954600-95957200	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:95954600-95961600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr9:95954800-95956000	Enhancers	Brain Angular Gyrus	brain
19	chr9:95954800-95956000	Enhancers	Esophagus	oesophagus
20	chr9:95954800-95956800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:95954800-95957400	Enhancers	Fetal Brain Female	brain
22	chr9:95954800-95959600	Enhancers	Duodenum Mucosa	Duodenum
23	chr9:95955000-95956000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:95955000-95956000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:95955000-95956000	Enhancers	Colonic Mucosa	Colon
26	chr9:95955000-95956000	Enhancers	Left Ventricle	heart
27	chr9:95955000-95956000	Enhancers	Psoas Muscle	Psoas
28	chr9:95955000-95956600	Enhancers	Fetal Intestine Large	intestine
29	chr9:95955000-95957400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:95955200-95956000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:95955200-95956000	Enhancers	Gastric	stomach
32	chr9:95955200-95957000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr9:95955200-95957000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:95955200-95957200	Enhancers	Stomach Mucosa	stomach
35	chr9:95955400-95956000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:95955400-95956000	Enhancers	Brain Anterior Caudate	brain
37	chr9:95955400-95956400	Enhancers	Fetal Intestine Small	intestine
38	chr9:95955400-95956800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:95955400-95957400	Enhancers	Fetal Lung	lung
40	chr9:95955400-95959000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:95955600-95956000	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr9:95955600-95956800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:95955600-95957000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:95955600-95957200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr9:95955600-95957200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:95955600-95957200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:95955600-95957400	Enhancers	Stomach Smooth Muscle	stomach
48	chr9:95955600-95958200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr9:95955600-95961600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr9:95955800-95956600	Weak transcription	HepG2	liver

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