Variant report

Variant	rs12335489
Chromosome Location	chr9:95821801-95821802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95819533..95824260-chr9:95855982..95859349,6	K562	blood:
2	chr9:95818120..95822805-chr9:95894646..95898384,4	K562	blood:
3	chr9:95818455..95825266-chr9:95831322..95836031,9	K562	blood:
4	chr9:95816364..95826268-chr9:95852309..95863275,20	MCF-7	breast:
5	chr9:95818697..95822651-chr9:95855885..95860349,6	MCF-7	breast:
6	chr9:95639787..95641673-chr9:95820453..95823030,2	K562	blood:
7	chr9:95819594..95823966-chr9:95894549..95897415,5	MCF-7	breast:
8	chr9:95820491..95823416-chr9:96211285..96213612,2	K562	blood:
9	chr9:95819521..95827100-chr9:95855273..95859349,14	K562	blood:
10	chr9:95821374..95823833-chr9:95837106..95839340,2	K562	blood:
11	chr9:95821315..95824272-chr9:95832580..95834111,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000131669	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000127081	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000157303	Chromatin interaction
ENSG00000223446	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10115063	1.00[AMR][1000 genomes]
rs10116083	1.00[AMR][1000 genomes]
rs10122591	1.00[AMR][1000 genomes]
rs12344304	1.00[AMR][1000 genomes]
rs12349778	0.95[AFR][1000 genomes];1.00[AMR][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95820000-95822600	Active TSS	Rectal Smooth Muscle	rectum
2	chr9:95820600-95822000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr9:95820600-95822800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:95820800-95822000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:95820800-95822000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr9:95820800-95822000	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr9:95820800-95822000	Active TSS	Right Atrium	heart
8	chr9:95820800-95827600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr9:95821000-95822000	Flanking Active TSS	Liver	Liver
10	chr9:95821000-95822000	Active TSS	Esophagus	oesophagus
11	chr9:95821000-95822000	Active TSS	Gastric	stomach
12	chr9:95821000-95822400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:95821000-95822800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:95821000-95822800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:95821000-95823000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr9:95821000-95827400	Flanking Active TSS	GM12878-XiMat	blood
17	chr9:95821200-95822000	Active TSS	Stomach Smooth Muscle	stomach
18	chr9:95821200-95822000	Enhancers	NH-A	brain
19	chr9:95821200-95822200	Active TSS	Brain Anterior Caudate	brain
20	chr9:95821200-95822400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:95821200-95822600	Active TSS	Brain Hippocampus Middle	brain
22	chr9:95821200-95823400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr9:95821400-95822000	Weak transcription	Spleen	Spleen
24	chr9:95821400-95822200	Enhancers	Left Ventricle	heart
25	chr9:95821400-95822200	Weak transcription	Pancreas	Pancrea
26	chr9:95821400-95822400	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:95821400-95822400	Weak transcription	Fetal Heart	heart
28	chr9:95821400-95822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:95821400-95822600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr9:95821400-95822600	Weak transcription	Osteobl	bone
31	chr9:95821400-95823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:95821400-95823200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:95821400-95823200	Weak transcription	HSMM	muscle
34	chr9:95821400-95823600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr9:95821400-95823800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:95821400-95824400	Enhancers	Lung	lung
37	chr9:95821600-95822000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:95821600-95822000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr9:95821600-95822000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
40	chr9:95821600-95822000	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr9:95821600-95822000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr9:95821600-95822000	Flanking Active TSS	Placenta	Placenta
43	chr9:95821600-95822000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr9:95821600-95822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:95821600-95822200	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr9:95821600-95822200	Enhancers	Stomach Mucosa	stomach
47	chr9:95821600-95822400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr9:95821600-95822400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr9:95821600-95822600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr9:95821600-95822600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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