Variant report

Variant	rs547583385
Chromosome Location	chr2:112826427-112826428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112819134..112821985-chr2:112825483..112827864,2	K562	blood:
2	chr2:112818714..112821811-chr2:112824906..112828402,3	MCF-7	breast:
3	chr2:112826096..112827842-chr2:112829800..112832394,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv829620	chr2:112825846-112832456	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 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	chr2:112814200-112827000	Weak transcription	Psoas Muscle	Psoas
2	chr2:112814200-112835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:112814400-112831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112814600-112829400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:112814800-112826800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:112814800-112832200	Weak transcription	A549	lung
9	chr2:112814800-112842000	Weak transcription	Fetal Heart	heart
10	chr2:112815200-112833200	Weak transcription	Hela-S3	cervix
11	chr2:112816000-112833800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:112816400-112827200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:112816400-112829600	Strong transcription	Placenta	Placenta
14	chr2:112816600-112834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:112816600-112866200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:112817000-112827000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:112817000-112827400	Strong transcription	Fetal Stomach	stomach
19	chr2:112817000-112830200	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:112817400-112827800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr2:112817400-112835400	Weak transcription	Esophagus	oesophagus
22	chr2:112817400-112835400	Weak transcription	Right Ventricle	heart
23	chr2:112818200-112829800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:112818400-112827200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:112818600-112827400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:112818600-112827600	Strong transcription	Liver	Liver
27	chr2:112818600-112829600	Strong transcription	Primary B cells from cord blood	blood
28	chr2:112818600-112833800	Strong transcription	Primary T cells from cord blood	blood
29	chr2:112818600-112836600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:112818800-112834000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:112819000-112827600	Strong transcription	Fetal Thymus	thymus
32	chr2:112819200-112838200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:112819400-112827800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:112819600-112836400	Strong transcription	Fetal Intestine Large	intestine
35	chr2:112819800-112826800	Weak transcription	Fetal Kidney	kidney
36	chr2:112819800-112828400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:112820400-112826800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:112820400-112831000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:112820400-112847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:112821200-112831200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:112821400-112826800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:112821400-112828200	Strong transcription	HepG2	liver
43	chr2:112821400-112835400	Weak transcription	Gastric	stomach
44	chr2:112821400-112835400	Weak transcription	Ovary	ovary
45	chr2:112821400-112835400	Weak transcription	Spleen	Spleen
46	chr2:112821400-112849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:112821600-112841600	Weak transcription	Brain Anterior Caudate	brain
48	chr2:112822000-112826800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:112822200-112831000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:112822200-112854400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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