Variant report

Variant	rs111672435
Chromosome Location	chr9:44118409-44118410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv436621	chr9:43145796-44122367	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1021270	chr9:43315962-44145340	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1024462	chr9:43315962-44205637	Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1029200	chr9:43437359-44214733	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1025269	chr9:43505840-44136778	Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1029217	chr9:43505840-44145340	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1027371	chr9:43505840-44273229	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1032592	chr9:43505840-44396915	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1021421	chr9:43505840-44469316	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv2753911	chr9:43530395-44466984	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv2756103	chr9:43530395-44466984	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1015636	chr9:43612150-44145340	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1029109	chr9:43612150-44273229	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1026029	chr9:43612150-44446124	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv1029916	chr9:43612150-44466205	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1034880	chr9:43612150-44469316	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv1016609	chr9:43654127-44241805	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv1016330	chr9:43654127-44273229	Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv1030605	chr9:43654127-44469316	Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv1019786	chr9:43675599-44469316	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv1024443	chr9:43700866-44469316	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv1020552	chr9:43726990-44273229	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1018992	chr9:43726990-44469316	Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv1015988	chr9:43734207-44469316	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv1034869	chr9:43757334-44739032	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	nsv1018198	chr9:43772038-44469316	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1026263	chr9:43776906-44469316	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	nsv1029361	chr9:43800174-44273229	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	esv1828893	chr9:43936609-44463095	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
30	esv1822441	chr9:43941952-44475321	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
31	nsv968643	chr9:43997036-44139152	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
32	esv1821075	chr9:44015421-44475321	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
33	esv1833488	chr9:44046700-44821943	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
34	nsv1020826	chr9:44114860-44241805	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv1027972	chr9:44114860-44243422	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
36	nsv1033665	chr9:44114860-44259151	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
37	nsv1018117	chr9:44114860-44273229	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
38	nsv1028168	chr9:44114860-44396915	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
39	nsv1034754	chr9:44114860-44446124	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
40	nsv1026041	chr9:44114860-44469316	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
41	nsv1030815	chr9:44114860-44824251	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
42	nsv1021486	chr9:44114860-44837515	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
43	nsv1030607	chr9:44114860-44855725	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
44	nsv1025176	chr9:44114860-44875930	Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
45	esv2761251	chr9:44114872-44875942	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
46	esv1828777	chr9:44118376-44416738	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:44118000-44118600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr9:44118000-44118600	Active TSS	Brain Hippocampus Middle	brain
3	chr9:44118000-44118800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:44118000-44118800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr9:44118000-44118800	Active TSS	Liver	Liver
6	chr9:44118000-44118800	Active TSS	NHEK	skin
7	chr9:44118000-44119000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:44118000-44119000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr9:44118000-44119000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:44118000-44119000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:44118000-44119000	Active TSS	Primary hematopoietic stem cells	blood
12	chr9:44118000-44119000	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr9:44118000-44119000	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr9:44118000-44119000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:44118000-44119000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:44118000-44119000	Active TSS	Colon Smooth Muscle	Colon
17	chr9:44118000-44119000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr9:44118000-44119000	Active TSS	Left Ventricle	heart
19	chr9:44118000-44119000	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr9:44118000-44119000	Active TSS	A549	lung
21	chr9:44118000-44119000	Active TSS	Dnd41	blood
22	chr9:44118000-44119200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr9:44118000-44119200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr9:44118000-44119200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:44118000-44119200	Active TSS	Brain Angular Gyrus	brain
26	chr9:44118000-44119200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr9:44118000-44119200	Active TSS	HepG2	liver
28	chr9:44118000-44119400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:44118000-44119400	Active TSS	Adipose Nuclei	Adipose
30	chr9:44118000-44119400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr9:44118000-44119400	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr9:44118000-44119400	Active TSS	Fetal Thymus	thymus
33	chr9:44118000-44119600	Active TSS	Brain Anterior Caudate	brain
34	chr9:44118000-44119600	Active TSS	Thymus	Thymus
35	chr9:44118000-44119800	Active TSS	Brain Germinal Matrix	brain
36	chr9:44118000-44120000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:44118000-44120000	Active TSS	Fetal Brain Female	brain
38	chr9:44118200-44118600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:44118200-44118600	Enhancers	Brain Cingulate Gyrus	brain
40	chr9:44118200-44118600	Bivalent/Poised TSS	Right Ventricle	heart
41	chr9:44118200-44118800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr9:44118200-44118800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr9:44118200-44118800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:44118200-44118800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:44118200-44118800	Active TSS	Brain Substantia Nigra	brain
46	chr9:44118200-44118800	Active TSS	Psoas Muscle	Psoas
47	chr9:44118200-44118800	Active TSS	Stomach Smooth Muscle	stomach
48	chr9:44118200-44118800	Active TSS	HMEC	breast
49	chr9:44118200-44119000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:44118200-44119000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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