Variant report

Variant	rs192165287
Chromosome Location	chr9:98279739-98279740
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:98279680-98279830	HRE	kidney:	n/a	n/a
2	MAZ	chr9:98278011-98279894	IMR90	lung:	n/a	n/a
3	REST	chr9:98277262-98280262	H1-neurons	neurons:	n/a	chr9:98277674-98277692 chr9:98277673-98277693 chr9:98278638-98278651 chr9:98277673-98277693
4	SIN3A	chr9:98277461-98280031	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr9:98278688-98279757	IMR90	lung:	n/a	chr9:98279444-98279453
6	CTCF	chr9:98279600-98279750	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr9:98279600-98279750	HBMEC	blood vessel:	n/a	n/a
8	TAF1	chr9:98278924-98280059	H1-neurons	neurons:	n/a	n/a
9	CTBP2	chr9:98278676-98280022	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr9:98278904-98280100	H1-hESC	embryonic stem cell:	n/a	chr9:98279444-98279453
11	E2F6	chr9:98278858-98279953	H1-hESC	embryonic stem cell:	n/a	chr9:98279407-98279419 chr9:98279410-98279419
12	POLR2A	chr9:98277497-98280257	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr9:98277613-98280271	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:98276862..98280186-chr9:98636651..98639407,3	K562	blood:
2	chr9:98279388..98282598-chr9:98285107..98287156,3	MCF-7	breast:
3	chr9:98277796..98280674-chr9:98636940..98639822,3	K562	blood:

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000175611	Chromatin interaction
ENSG00000182150	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv824994	chr9:98239963-98314431	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv824995	chr9:98243455-98326547	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS 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	14 gene(s)	inside rSNPs	diseases
6	nsv824996	chr9:98245375-98283861	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv917118	chr9:98279162-98284265	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98277200-98280000	Active TSS	Fetal Kidney	kidney
2	chr9:98277400-98280000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr9:98277400-98280200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr9:98277600-98279800	Active TSS	Ovary	ovary
5	chr9:98277600-98280200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr9:98277800-98279800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:98277800-98279800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:98277800-98279800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr9:98277800-98279800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr9:98277800-98280200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr9:98277800-98280200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr9:98277800-98280200	Active TSS	Brain Cingulate Gyrus	brain
13	chr9:98277800-98280200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:98278000-98279800	Flanking Active TSS	Liver	Liver
15	chr9:98278000-98280000	Active TSS	Brain Anterior Caudate	brain
16	chr9:98278000-98280200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr9:98278000-98280200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr9:98278000-98280200	Active TSS	Brain Substantia Nigra	brain
19	chr9:98278000-98280200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr9:98278200-98279800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:98278200-98279800	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:98278200-98280200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:98278400-98279800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr9:98278400-98279800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:98278400-98279800	Active TSS	Brain Hippocampus Middle	brain
26	chr9:98278400-98280000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:98278800-98279800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr9:98278800-98279800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:98278800-98279800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr9:98278800-98279800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr9:98278800-98280000	Flanking Active TSS	Fetal Brain Male	brain
32	chr9:98279000-98279800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
33	chr9:98279000-98279800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:98279000-98279800	Active TSS	Right Ventricle	heart
35	chr9:98279200-98279800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
36	chr9:98279200-98280000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr9:98279200-98280000	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr9:98279200-98280200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr9:98279200-98280200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:98279400-98279800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:98279400-98279800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:98279400-98279800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:98279400-98279800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:98279400-98279800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:98279400-98279800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr9:98279400-98279800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
47	chr9:98279400-98279800	Flanking Active TSS	Fetal Heart	heart
48	chr9:98279400-98279800	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr9:98279400-98279800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr9:98279400-98279800	Flanking Active TSS	Left Ventricle	heart

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