Variant report

Variant	rs576423699
Chromosome Location	chr1:247021170-247021171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247014087..247017239-chr1:247019400..247022129,3	K562	blood:
2	chr1:247019729..247021286-chr1:247026744..247028354,2	K562	blood:
3	chr1:247017685..247021797-chr1:247033247..247038806,7	K562	blood:
4	chr1:247019583..247021599-chr1:247036719..247038806,2	K562	blood:

Variant related genes	Relation type
ENSG00000153207	Chromatin interaction

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	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv3323284	chr1:247020977-247024280	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:247003200-247029200	Strong transcription	Fetal Thymus	thymus
10	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:247003400-247022600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:247003400-247044600	Strong transcription	Dnd41	blood
15	chr1:247004000-247022200	Strong transcription	Fetal Intestine Large	intestine
16	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
19	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:247004200-247021200	Strong transcription	A549	lung
21	chr1:247004200-247025200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:247004200-247025400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:247004200-247044400	Strong transcription	Liver	Liver
28	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:247004400-247025200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:247004400-247025200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr1:247004400-247025400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:247004400-247025600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
34	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:247005200-247025600	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
37	chr1:247005800-247025400	Strong transcription	Primary B cells from cord blood	blood
38	chr1:247005800-247025400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr1:247006000-247029000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:247008000-247021400	Strong transcription	NH-A	brain
42	chr1:247008800-247027800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:247009000-247025200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr1:247009000-247025200	Strong transcription	Placenta	Placenta
45	chr1:247009200-247024800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:247009600-247031000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:247010000-247041200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:247010600-247025400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:247010600-247025600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:247010600-247029000	Strong transcription	Osteobl	bone

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