Variant report

Variant	rs568216438
Chromosome Location	chr9:116919377-116919378
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	chr9:116918121..116920168-chr9:116937255..116940070,3	K562	blood:
2	chr9:116918924..116921858-chr9:116922744..116925296,3	K562	blood:

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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116917200-116919400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:116917400-116919400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:116917400-116919600	Active TSS	Hela-S3	cervix
4	chr9:116917400-116919800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr9:116917600-116919400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:116917600-116919400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr9:116917600-116919400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:116917600-116919400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:116917600-116919400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr9:116917600-116919400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:116917600-116919400	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr9:116917600-116919400	Active TSS	Ovary	ovary
13	chr9:116917600-116919400	Active TSS	Right Ventricle	heart
14	chr9:116917600-116919400	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr9:116917600-116919400	Active TSS	HSMM	muscle
16	chr9:116917600-116919600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:116917600-116919800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:116917600-116919800	Active TSS	Colon Smooth Muscle	Colon
19	chr9:116917600-116919800	Active TSS	Fetal Lung	lung
20	chr9:116917800-116919400	Active TSS	Aorta	Aorta
21	chr9:116917800-116919400	Active TSS	Left Ventricle	heart
22	chr9:116917800-116919400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr9:116917800-116919400	Active TSS	NHDF-Ad	bronchial
24	chr9:116918400-116919400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr9:116918600-116919400	Bivalent/Poised TSS	Fetal Thymus	thymus
26	chr9:116918600-116919600	Active TSS	Fetal Kidney	kidney
27	chr9:116918800-116919400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:116918800-116919400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr9:116918800-116919400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr9:116918800-116919400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:116918800-116919400	Flanking Bivalent TSS/Enh	Placenta	Placenta
32	chr9:116918800-116919400	Flanking Active TSS	Fetal Stomach	stomach
33	chr9:116918800-116919400	Flanking Active TSS	Pancreas	Pancrea
34	chr9:116918800-116919400	Flanking Active TSS	HMEC	breast
35	chr9:116918800-116919400	Flanking Active TSS	HUVEC	blood vessel
36	chr9:116918800-116919600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr9:116918800-116919600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:116918800-116919600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:116918800-116919600	Enhancers	Fetal Heart	heart
40	chr9:116918800-116919800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:116918800-116919800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:116918800-116919800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr9:116918800-116920000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr9:116918800-116920000	Flanking Active TSS	NH-A	brain
45	chr9:116919000-116919400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:116919000-116919400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:116919000-116919400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr9:116919000-116919400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:116919000-116919400	Flanking Active TSS	A549	lung
50	chr9:116919000-116919600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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