Variant report

Variant	rs58937239
Chromosome Location	chr1:197156641-197156642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197154600..197157025-chr1:197162185..197164324,3	K562	blood:
2	chr1:197149643..197151239-chr1:197155881..197158669,2	K562	blood:
3	chr1:197155834..197158603-chr1:197158660..197160759,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1764793	1.00[AMR][1000 genomes]
rs2039639	1.00[AMR][1000 genomes]
rs56859250	0.91[AFR][1000 genomes]
rs59310838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60000414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs651956	1.00[AMR][1000 genomes]
rs693896	1.00[AMR][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
3	chr1:197125600-197160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
5	chr1:197125800-197158400	Weak transcription	Spleen	Spleen
6	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:197128200-197161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:197128400-197157000	Weak transcription	Colonic Mucosa	Colon
9	chr1:197135200-197161800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:197136000-197161600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:197141400-197166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:197142000-197159600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr1:197142200-197159800	Strong transcription	Fetal Thymus	thymus
14	chr1:197143200-197165800	Weak transcription	Small Intestine	intestine
15	chr1:197144400-197158200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:197145200-197157000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:197147600-197161000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:197148400-197160800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:197148400-197161200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:197148600-197159600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:197148800-197161000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:197149800-197156800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:197149800-197165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:197151200-197160200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:197152000-197157600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr1:197152000-197161000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:197152400-197161000	Strong transcription	Dnd41	blood
28	chr1:197152400-197168600	Weak transcription	Stomach Mucosa	stomach
29	chr1:197152600-197158400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:197152800-197161600	Strong transcription	HSMM	muscle
31	chr1:197153200-197165000	Weak transcription	Fetal Heart	heart
32	chr1:197153400-197161000	Strong transcription	Primary B cells from cord blood	blood
33	chr1:197153400-197161000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:197154000-197157600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:197154000-197157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:197154000-197160200	Strong transcription	Osteobl	bone
37	chr1:197154200-197157800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:197154200-197158000	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:197154200-197159600	Strong transcription	Primary T cells from cord blood	blood
40	chr1:197154200-197159600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:197154200-197160800	Strong transcription	Fetal Lung	lung
42	chr1:197154200-197161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:197154200-197161000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:197154200-197161000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:197154200-197161000	Strong transcription	Liver	Liver
46	chr1:197154200-197161000	Strong transcription	Placenta	Placenta
47	chr1:197154200-197161400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:197154400-197157400	Strong transcription	Brain Angular Gyrus	brain
49	chr1:197154400-197157600	Strong transcription	HUVEC	blood vessel
50	chr1:197154400-197157600	Strong transcription	K562	blood

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