Variant report

Variant	rs543514632
Chromosome Location	chr9:123265829-123265830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:123264422..123266542-chr9:123273482..123275479,2	K562	blood:

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	nsv825069	chr9:123220951-123294240	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv33143	chr9:123253701-123471089	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv831711	chr9:123265308-123467641	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:123193400-123267600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:123208800-123294200	Weak transcription	Stomach Mucosa	stomach
3	chr9:123237600-123287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:123239800-123278800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:123243600-123287200	Weak transcription	NHLF	lung
6	chr9:123245000-123275800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:123245800-123267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:123246000-123285000	Weak transcription	Psoas Muscle	Psoas
9	chr9:123249600-123268200	Weak transcription	Fetal Brain Male	brain
10	chr9:123249600-123270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:123249600-123273400	Weak transcription	HMEC	breast
12	chr9:123249800-123274800	Weak transcription	Placenta	Placenta
13	chr9:123250200-123267600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:123250200-123271200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:123250200-123274200	Weak transcription	Right Ventricle	heart
16	chr9:123250200-123286800	Weak transcription	Colonic Mucosa	Colon
17	chr9:123251600-123266000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:123253000-123272800	Weak transcription	NHDF-Ad	bronchial
19	chr9:123253000-123273400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:123253000-123276200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:123253200-123268000	Weak transcription	Fetal Intestine Small	intestine
22	chr9:123253200-123275800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr9:123253400-123268200	Weak transcription	Fetal Kidney	kidney
24	chr9:123253400-123268200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr9:123253400-123268400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr9:123253400-123272600	Weak transcription	Esophagus	oesophagus
27	chr9:123253400-123272800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr9:123253400-123273200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:123253400-123274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:123253400-123275600	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:123253400-123275600	Weak transcription	Small Intestine	intestine
32	chr9:123253400-123279000	Weak transcription	Pancreas	Pancrea
33	chr9:123253400-123279000	Weak transcription	NH-A	brain
34	chr9:123253600-123270800	Weak transcription	Brain Angular Gyrus	brain
35	chr9:123253600-123287200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr9:123253800-123277600	Weak transcription	HUVEC	blood vessel
37	chr9:123254200-123286400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr9:123257400-123268200	Weak transcription	Fetal Heart	heart
39	chr9:123259800-123268200	Strong transcription	Primary T cells from cord blood	blood
40	chr9:123260200-123268800	Strong transcription	Dnd41	blood
41	chr9:123260600-123266000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:123260800-123266000	Weak transcription	Brain Germinal Matrix	brain
43	chr9:123260800-123278800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:123261400-123268000	Weak transcription	HSMM	muscle
45	chr9:123261600-123266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:123262400-123268000	Strong transcription	Primary B cells from cord blood	blood
47	chr9:123262600-123267000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:123262600-123273200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:123262600-123277400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:123262800-123266800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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