Variant report

Variant	rs574229211
Chromosome Location	chr9:21319027-21319028
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	REST	chr9:21318161-21319042	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr9:21318651-21319038	H1-neurons	neurons:	n/a	n/a
3	SMC3	chr9:21318168-21319039	SK-N-SH	brain:	n/a	chr9:21318470-21318484 chr9:21318607-21318615
4	REST	chr9:21318359-21319027	H1-neurons	neurons:	n/a	n/a
5	RFX5	chr9:21318228-21319070	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:21318010..21319069-chr9:21395893..21396720,4	MCF-7	breast:

Variant related genes	Relation type
IFNA20P	TF binding region
ENSG00000261696	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	nsv892734	chr9:21108817-21323089	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv3429264	chr9:21318302-21321050	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21309800-21322600	Weak transcription	Brain Substantia Nigra	brain
2	chr9:21312200-21322000	Weak transcription	GM12878-XiMat	blood
3	chr9:21315000-21323000	Weak transcription	Thymus	Thymus
4	chr9:21316200-21322800	Weak transcription	Fetal Lung	lung
5	chr9:21316400-21322800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:21316600-21321200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:21316600-21322600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:21316600-21322600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:21316600-21322800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:21316600-21322800	Weak transcription	Lung	lung
11	chr9:21316600-21323000	Weak transcription	Pancreas	Pancrea
12	chr9:21316600-21330600	Weak transcription	Small Intestine	intestine
13	chr9:21316800-21322800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:21317000-21320400	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:21317000-21321200	Weak transcription	Primary B cells from cord blood	blood
16	chr9:21317000-21321200	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:21317000-21326800	Weak transcription	Hela-S3	cervix
18	chr9:21317200-21320600	Weak transcription	Liver	Liver
19	chr9:21317200-21322800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:21317200-21323000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:21317200-21323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:21317200-21331600	Weak transcription	Esophagus	oesophagus
23	chr9:21317200-21331600	Weak transcription	Gastric	stomach
24	chr9:21317400-21321400	Weak transcription	Osteobl	bone
25	chr9:21317400-21323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:21317600-21321600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr9:21318200-21321200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:21318200-21330000	Weak transcription	Brain Anterior Caudate	brain
29	chr9:21318200-21330400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:21318400-21320000	Weak transcription	Primary T cells from cord blood	blood
31	chr9:21318600-21321200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr9:21318600-21321200	Weak transcription	Aorta	Aorta
33	chr9:21318800-21320200	Weak transcription	HSMM	muscle
34	chr9:21318800-21320400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr9:21318800-21320600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr9:21318800-21320800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:21318800-21321200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr9:21318800-21321200	Weak transcription	Adipose Nuclei	Adipose
39	chr9:21318800-21321400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr9:21318800-21321400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:21318800-21321400	Weak transcription	Fetal Intestine Large	intestine
42	chr9:21318800-21321400	Weak transcription	Left Ventricle	heart
43	chr9:21318800-21322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:21318800-21322800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr9:21318800-21322800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr9:21318800-21322800	Weak transcription	Dnd41	blood
47	chr9:21318800-21322800	Weak transcription	NHLF	lung
48	chr9:21318800-21324000	Weak transcription	NHEK	skin
49	chr9:21318800-21326800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr9:21318800-21326800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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