Variant report

Variant	rs576618222
Chromosome Location	chr9:136397850-136397851
allele	C/T
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	chr9:136397766-136398950	SK-N-SH	brain:	n/a	chr9:136397961-136397969
2	CTCF	chr9:136397840-136397990	HCFaa	heart:	n/a	chr9:136397961-136397969
3	CTCF	chr9:136397740-136397890	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr9:136397760-136397910	WI-38	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:136397453..136398861-chr9:136590869..136592101,16	MCF-7	breast:
2	chr9:136392388..136394201-chr9:136396495..136398208,2	K562	blood:
3	chr9:136391559..136394179-chr9:136396681..136398640,3	MCF-7	breast:
4	chr9:136397639..136398833-chr9:136580643..136581791,10	MCF-7	breast:

Variant related genes	Relation type
TMEM8C	TF binding region
ADAMTSL2	TF binding region
ENSG00000187616	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894059	chr9:136123840-136486929	Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv894077	chr9:136166346-136515297	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv894078	chr9:136194595-136484292	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv933226	chr9:136224559-136407071	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv894083	chr9:136281753-136452144	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv894084	chr9:136281753-136458311	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv894085	chr9:136281753-136478442	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv894092	chr9:136311679-136452144	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv894093	chr9:136311679-136458311	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv894094	chr9:136311679-136528721	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	nsv894097	chr9:136333356-136407208	Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv894098	chr9:136335824-136452144	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv894099	chr9:136337168-136459543	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
17	nsv894100	chr9:136371224-136547602	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv894101	chr9:136378650-136458311	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv894102	chr9:136388223-136496708	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv894103	chr9:136397195-136442192	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv615637	chr9:136397834-136404516	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr9:136392200-136398800	Weak transcription	Gastric	stomach
2	chr9:136393200-136398600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:136393600-136399400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr9:136394000-136398000	Weak transcription	Brain Angular Gyrus	brain
5	chr9:136394200-136398000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:136394200-136398000	Weak transcription	Right Atrium	heart
7	chr9:136394200-136398200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:136394200-136398200	Weak transcription	Brain Anterior Caudate	brain
9	chr9:136394200-136398600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:136394200-136398600	Weak transcription	Fetal Kidney	kidney
11	chr9:136394200-136399200	Weak transcription	Left Ventricle	heart
12	chr9:136394200-136399200	Weak transcription	Pancreas	Pancrea
13	chr9:136394400-136398000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:136394400-136398200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:136394400-136398400	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:136394400-136398600	Weak transcription	Ovary	ovary
17	chr9:136394400-136399200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr9:136394600-136399200	Weak transcription	Fetal Heart	heart
19	chr9:136395000-136398000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:136395000-136399000	Weak transcription	Fetal Brain Female	brain
21	chr9:136395200-136398000	Weak transcription	HSMMtube	muscle
22	chr9:136395200-136398400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:136395400-136398800	Weak transcription	Right Ventricle	heart
24	chr9:136396000-136398000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:136396200-136398000	Weak transcription	Spleen	Spleen
26	chr9:136397000-136398000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:136397000-136398600	Enhancers	Fetal Thymus	thymus
28	chr9:136397200-136398200	Weak transcription	Fetal Lung	lung
29	chr9:136397600-136398000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:136397600-136398600	Enhancers	Primary B cells from cord blood	blood
31	chr9:136397600-136398600	Enhancers	Primary T cells from cord blood	blood
32	chr9:136397600-136398600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr9:136397600-136398800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:136397600-136398800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr9:136397600-136399200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr9:136397600-136399200	Enhancers	Primary hematopoietic stem cells	blood
37	chr9:136397600-136399200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr9:136397600-136399200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr9:136397600-136399200	Enhancers	Brain Substantia Nigra	brain
40	chr9:136397600-136399200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr9:136397800-136398200	Enhancers	Thymus	Thymus
42	chr9:136397800-136398200	Flanking Active TSS	HepG2	liver
43	chr9:136397800-136398400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr9:136397800-136398400	Enhancers	Lung	lung
45	chr9:136397800-136398600	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr9:136397800-136398800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr9:136397800-136399200	Enhancers	Liver	Liver
48	chr9:136397800-136399200	Enhancers	Brain Hippocampus Middle	brain
49	chr9:136397800-136399600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr9:136397800-136399600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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