Variant report

Variant	rs56000948
Chromosome Location	chr9:95837832-95837833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95822333..95825278-chr9:95837106..95839130,2	K562	blood:
2	chr9:95836433..95839716-chr9:95857112..95859534,3	K562	blood:
3	chr9:95818565..95822101-chr9:95835996..95838138,3	MCF-7	breast:
4	chr9:95821374..95823833-chr9:95837106..95839340,2	K562	blood:
5	chr9:95832871..95835719-chr9:95837234..95839354,3	K562	blood:

Variant related genes	Relation type
ENSG00000157303	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000223446	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10821063	0.81[ASN][1000 genomes]
rs10821066	0.85[EUR][1000 genomes]
rs10992622	0.95[ASN][1000 genomes]
rs10992623	0.93[ASN][1000 genomes]
rs1131773	0.94[EUR][1000 genomes]
rs12352182	0.84[EUR][1000 genomes]
rs12555029	0.92[ASN][1000 genomes]
rs16908779	0.84[EUR][1000 genomes]
rs4077176	0.88[ASN][1000 genomes]
rs4077177	0.92[ASN][1000 genomes]
rs4077637	0.91[ASN][1000 genomes]
rs4077811	0.94[EUR][1000 genomes]
rs4078501	0.86[ASN][1000 genomes]
rs57327517	0.92[ASN][1000 genomes]
rs60671060	0.92[ASN][1000 genomes]
rs6479448	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6479450	0.81[EUR][1000 genomes]
rs7019574	0.86[ASN][1000 genomes]
rs7036869	0.92[ASN][1000 genomes]
rs7046192	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7859109	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870697	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870953	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9695137	0.84[EUR][1000 genomes]
rs9696341	0.84[EUR][1000 genomes]
rs9696357	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1054767	chr9:95738134-95875977	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv893575	chr9:95781040-95854013	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv893577	chr9:95812707-95872216	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv893578	chr9:95818641-95887320	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95824600-95854000	Weak transcription	Gastric	stomach
2	chr9:95827600-95839800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
3	chr9:95828200-95841600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:95828400-95840000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:95828600-95840000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:95828600-95845000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:95830600-95840200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:95832800-95838600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr9:95833000-95842800	Weak transcription	GM12878-XiMat	blood
10	chr9:95834200-95838000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:95834400-95857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:95834800-95838200	Weak transcription	Fetal Thymus	thymus
13	chr9:95834800-95846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:95834800-95848000	Weak transcription	Aorta	Aorta
15	chr9:95835000-95838200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr9:95835000-95838400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:95835000-95839000	Weak transcription	K562	blood
18	chr9:95835000-95842800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr9:95835200-95838400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr9:95835400-95838600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr9:95835400-95838800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:95835400-95839400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:95835400-95839800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:95835400-95840200	Weak transcription	Fetal Intestine Small	intestine
25	chr9:95835400-95843400	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:95835400-95845000	Weak transcription	Lung	lung
27	chr9:95835400-95845400	Weak transcription	Fetal Intestine Large	intestine
28	chr9:95835400-95846400	Weak transcription	Esophagus	oesophagus
29	chr9:95835400-95846600	Weak transcription	Liver	Liver
30	chr9:95835400-95848800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr9:95835400-95849000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:95835600-95843400	Weak transcription	Fetal Muscle Leg	muscle
33	chr9:95835600-95848000	Weak transcription	Colonic Mucosa	Colon
34	chr9:95836000-95838200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr9:95836200-95850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:95836200-95855600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr9:95836400-95838000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:95836400-95838200	Weak transcription	Spleen	Spleen
39	chr9:95836400-95838600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr9:95836400-95839400	Weak transcription	Primary B cells from cord blood	blood
41	chr9:95836400-95845000	Weak transcription	Fetal Stomach	stomach
42	chr9:95837200-95841000	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr9:95837400-95838000	Weak transcription	Ovary	ovary
44	chr9:95837400-95839000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr9:95837400-95839200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr9:95837400-95843200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:95837600-95838200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr9:95837600-95841400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:95837800-95838800	Strong transcription	Thymus	Thymus
50	chr9:95837800-95844200	Strong transcription	Primary T cells from cord blood	blood

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