Variant report

Variant	rs74072348
Chromosome Location	chr1:46914169-46914170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46912642..46915291-chr1:46916388..46919723,5	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs630215	0.84[AFR][1000 genomes]
rs74072347	1.00[AFR][1000 genomes]
rs74072350	1.00[AFR][1000 genomes]
rs74072351	1.00[AFR][1000 genomes]
rs74072359	0.84[AFR][1000 genomes]

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	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv534951	chr1:46910546-46948727	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46912400-46914600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:46912400-46915200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr1:46912600-46914400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr1:46912600-46914600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
5	chr1:46912600-46914600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:46912800-46914600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr1:46912800-46914600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:46913200-46914400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:46913200-46914800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:46913200-46915000	Weak transcription	K562	blood
11	chr1:46913400-46914200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:46913400-46914600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:46913400-46914600	Bivalent Enhancer	Fetal Intestine Small	intestine
14	chr1:46913400-46914600	Enhancers	Gastric	stomach
15	chr1:46913400-46914800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr1:46913600-46914200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:46913600-46914200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:46913600-46914400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr1:46913600-46914400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:46913600-46914400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:46913600-46914400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:46913600-46914400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:46913600-46914400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr1:46913600-46914400	Bivalent Enhancer	Esophagus	oesophagus
25	chr1:46913600-46914600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:46913600-46914600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:46913600-46914600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:46913600-46914600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:46913600-46914600	Bivalent Enhancer	Fetal Brain Male	brain
30	chr1:46913600-46914600	Bivalent Enhancer	Lung	lung
31	chr1:46913600-46914600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr1:46913800-46914200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:46913800-46914200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:46913800-46914200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:46913800-46914200	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr1:46913800-46914200	Bivalent/Poised TSS	Fetal Lung	lung
37	chr1:46913800-46914200	Weak transcription	Pancreas	Pancrea
38	chr1:46913800-46914200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
39	chr1:46913800-46914200	Active TSS	Right Atrium	heart
40	chr1:46913800-46914200	Bivalent/Poised TSS	HSMM	muscle
41	chr1:46913800-46914400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr1:46913800-46914400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:46913800-46914400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:46913800-46914400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr1:46913800-46914400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:46913800-46914400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:46913800-46914400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:46913800-46914400	Active TSS	Ovary	ovary
49	chr1:46913800-46914600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr1:46913800-46914600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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