Variant report

Variant	rs564396640
Chromosome Location	chr9:116918250-116918251
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116917422..116918284-chr9:117067805..117069207,4	K562	blood:
2	chr9:116918121..116920168-chr9:116937255..116940070,3	K562	blood:

Variant related genes	Relation type
ENSG00000196739	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466526	chr9:116901926-116924781	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615226	chr9:116901926-116924781	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv615227	chr9:116904534-116924781	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv466527	chr9:116907448-116933449	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv615228	chr9:116907448-116933449	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv466529	chr9:116907553-116930194	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv615229	chr9:116907553-116930194	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv466530	chr9:116916931-116935660	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv615230	chr9:116916931-116935660	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv466531	chr9:116916931-116940418	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv615231	chr9:116916931-116940418	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv3360971	chr9:116917156-116919904	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3449146	chr9:116917406-116919679	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116916800-116918400	Enhancers	Spleen	Spleen
2	chr9:116917200-116919000	Active TSS	Right Atrium	heart
3	chr9:116917200-116919200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:116917200-116919400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:116917400-116918600	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr9:116917400-116918800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr9:116917400-116918800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr9:116917400-116918800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:116917400-116918800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:116917400-116918800	Active TSS	Gastric	stomach
11	chr9:116917400-116918800	Active TSS	Pancreas	Pancrea
12	chr9:116917400-116919000	Active TSS	Duodenum Mucosa	Duodenum
13	chr9:116917400-116919200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:116917400-116919200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:116917400-116919200	Active TSS	Rectal Smooth Muscle	rectum
16	chr9:116917400-116919400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr9:116917400-116919600	Active TSS	Hela-S3	cervix
18	chr9:116917400-116919800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr9:116917600-116918400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr9:116917600-116918400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
21	chr9:116917600-116918600	Active TSS	Primary T cells from cord blood	blood
22	chr9:116917600-116918600	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr9:116917600-116918800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:116917600-116918800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr9:116917600-116918800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:116917600-116918800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:116917600-116918800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:116917600-116918800	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr9:116917600-116918800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr9:116917600-116918800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:116917600-116918800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr9:116917600-116918800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr9:116917600-116918800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:116917600-116918800	Active TSS	Brain Hippocampus Middle	brain
35	chr9:116917600-116918800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr9:116917600-116918800	Weak transcription	Fetal Heart	heart
37	chr9:116917600-116918800	Active TSS	Placenta Amnion	Placenta Amnion
38	chr9:116917600-116918800	Active TSS	Stomach Smooth Muscle	stomach
39	chr9:116917600-116918800	Active TSS	HMEC	breast
40	chr9:116917600-116918800	Active TSS	NH-A	brain
41	chr9:116917600-116918800	Active TSS	Osteobl	bone
42	chr9:116917600-116919000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:116917600-116919000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:116917600-116919000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:116917600-116919000	Active TSS	Colonic Mucosa	Colon
46	chr9:116917600-116919000	Active TSS	Esophagus	oesophagus
47	chr9:116917600-116919000	Active TSS	Fetal Intestine Small	intestine
48	chr9:116917600-116919000	Active TSS	Psoas Muscle	Psoas
49	chr9:116917600-116919000	Bivalent/Poised TSS	Thymus	Thymus
50	chr9:116917600-116919000	Active TSS	A549	lung

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