Variant report

Variant	rs58077600
Chromosome Location	chr3:191072594-191072595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191071589..191073614-chr3:191084774..191087547,2	K562	blood:
2	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
3	chr3:191072104..191073931-chr3:191077551..191079300,2	K562	blood:
4	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:

Variant related genes	Relation type
ENSG00000152492	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10513865	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1369278	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1369279	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1474188	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16822368	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16822380	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16822451	0.84[ASN][1000 genomes]
rs16848976	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16866501	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16866503	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16866506	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2117548	0.87[ASN][1000 genomes]
rs2293379	0.87[ASN][1000 genomes]
rs4247189	0.94[ASN][1000 genomes]
rs4247190	0.94[ASN][1000 genomes]
rs4677633	0.85[ASN][1000 genomes]
rs4677724	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4677731	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57369465	0.94[ASN][1000 genomes]
rs57831251	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58596458	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58631024	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58648691	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59491001	0.85[ASN][1000 genomes]
rs60089463	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60176909	0.85[ASN][1000 genomes]
rs60204557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812544	0.86[ASN][1000 genomes]
rs9832656	0.84[ASN][1000 genomes]
rs9838800	0.84[ASN][1000 genomes]
rs9844500	0.84[ASN][1000 genomes]
rs9854318	0.84[ASN][1000 genomes]
rs9854581	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv461054	chr3:191060954-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv592821	chr3:191060954-191073228	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv461055	chr3:191061214-191073228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv461056	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv592824	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv878105	chr3:191061214-191073228	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv516440	chr3:191061214-191073706	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3429054	chr3:191063458-191072756	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv437353	chr3:191063743-191073228	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv437354	chr3:191063743-191073228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3486622	chr3:191063908-191072706	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv508266	chr3:191064212-191083637	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv1808657	chr3:191064330-191081793	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv592827	chr3:191064528-191073228	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv878106	chr3:191064528-191081344	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv435761	chr3:191064550-191073833	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv1822702	chr3:191064803-191073199	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv1823184	chr3:191064803-191082303	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv1848120	chr3:191064803-191082303	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv592835	chr3:191065392-191073706	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv592840	chr3:191065516-191073706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv1839532	chr3:191065921-191074873	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	esv3463848	chr3:191069058-191073456	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv878107	chr3:191069984-191100073	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:191062000-191075600	Weak transcription	K562	blood
6	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
7	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
8	chr3:191068400-191073200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:191068600-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:191068600-191073800	Weak transcription	NHLF	lung
11	chr3:191068600-191074600	Weak transcription	Fetal Stomach	stomach
12	chr3:191068600-191075000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:191068600-191075000	Weak transcription	Aorta	Aorta
14	chr3:191068600-191076600	Weak transcription	Fetal Kidney	kidney
15	chr3:191068800-191073400	Weak transcription	Osteobl	bone
16	chr3:191068800-191073600	Weak transcription	HSMM	muscle
17	chr3:191068800-191075400	Enhancers	Colon Smooth Muscle	Colon
18	chr3:191068800-191078800	Weak transcription	Fetal Brain Male	brain
19	chr3:191069400-191074200	Enhancers	HUVEC	blood vessel
20	chr3:191069400-191075000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:191069600-191073200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:191069600-191073400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:191069800-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:191070200-191073200	Weak transcription	HMEC	breast
26	chr3:191070200-191073200	Weak transcription	NH-A	brain
27	chr3:191070200-191073200	Weak transcription	NHEK	skin
28	chr3:191070400-191073200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:191070800-191073800	Enhancers	Primary B cells from peripheral blood	blood
30	chr3:191071000-191072600	Enhancers	Brain Anterior Caudate	brain
31	chr3:191071000-191072600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr3:191071000-191073200	Weak transcription	Hela-S3	cervix
33	chr3:191071000-191074800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:191071000-191076000	Weak transcription	Primary T cells from cord blood	blood
35	chr3:191071000-191088400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr3:191071200-191073800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:191071200-191074000	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:191071200-191076800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:191071200-191078800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:191071200-191078800	Weak transcription	Lung	lung
41	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
42	chr3:191071400-191073200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:191071400-191073200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:191071400-191073200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:191071400-191073200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:191071400-191073200	Weak transcription	Ovary	ovary
47	chr3:191071400-191073200	Weak transcription	Psoas Muscle	Psoas
48	chr3:191071400-191073200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:191071400-191073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:191071400-191073600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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