Variant report

Variant	rs58489175
Chromosome Location	chr7:127674026-127674027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127674016-127674207	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127673149..127675504-chr7:127681754..127684227,2	MCF-7	breast:
2	chr7:127672187..127674051-chr7:127688300..127690712,2	K562	blood:
3	chr7:127672744..127674638-chr7:127845082..127846622,2	K562	blood:
4	chr7:127666110..127669340-chr7:127673259..127677722,5	K562	blood:
5	chr7:127227216..127230211-chr7:127672180..127674348,2	MCF-7	breast:
6	chr7:127669395..127671231-chr7:127673315..127675845,3	K562	blood:

No data

Variant related genes	Relation type
LRRC4	TF binding region
ENSG00000128594	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000004059	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10487499	1.00[ASN][1000 genomes]
rs10487502	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375023	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533765	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12534918	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706816	1.00[ASN][1000 genomes]
rs12706818	1.00[ASN][1000 genomes]
rs12706820	1.00[ASN][1000 genomes]
rs12706821	1.00[ASN][1000 genomes]
rs12706822	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	1.00[ASN][1000 genomes]
rs13231367	1.00[ASN][1000 genomes]
rs13246200	1.00[ASN][1000 genomes]
rs13246286	1.00[ASN][1000 genomes]
rs1345283	1.00[ASN][1000 genomes]
rs1362898	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17151466	1.00[ASN][1000 genomes]
rs17151488	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	0.93[EUR][1000 genomes]
rs17151653	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151668	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151707	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17151739	0.84[AMR][1000 genomes]
rs17676654	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026100	1.00[ASN][1000 genomes]
rs34688920	1.00[ASN][1000 genomes]
rs35154268	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55660321	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467157	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827668	1.00[ASN][1000 genomes]
rs6948605	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953231	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73232968	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238088	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73239704	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs741094	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785596	1.00[ASN][1000 genomes]
rs7805021	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810024	1.00[ASN][1000 genomes]
rs9649512	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3422434	chr7:127670741-127674089	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
3	chr7:127669600-127718200	Weak transcription	A549	lung
4	chr7:127670400-127698800	Weak transcription	Dnd41	blood
5	chr7:127670800-127681400	Weak transcription	HepG2	liver
6	chr7:127672200-127674400	Weak transcription	GM12878-XiMat	blood
7	chr7:127672200-127678200	Weak transcription	Liver	Liver
8	chr7:127672200-127681000	Weak transcription	NHEK	skin
9	chr7:127672200-127681400	Weak transcription	NHDF-Ad	bronchial
10	chr7:127672600-127695400	Weak transcription	Aorta	Aorta
11	chr7:127672800-127682200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:127673000-127674800	Weak transcription	Psoas Muscle	Psoas
13	chr7:127673000-127675400	Weak transcription	HSMMtube	muscle
14	chr7:127673000-127676000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:127673000-127677600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:127673000-127680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:127673000-127681200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:127673000-127681800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:127673000-127692600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:127673000-127692800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:127673200-127674400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:127673200-127675600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:127673200-127675800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:127673200-127678200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:127673200-127680800	Weak transcription	NHLF	lung
27	chr7:127673200-127681000	Weak transcription	HMEC	breast
28	chr7:127673200-127681800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:127673200-127682400	Weak transcription	Lung	lung
30	chr7:127673200-127682400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:127673200-127684000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:127673200-127684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:127673200-127692600	Weak transcription	Right Atrium	heart
34	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
35	chr7:127673400-127674200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:127673400-127674200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:127673400-127674600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:127673400-127675000	Weak transcription	Right Ventricle	heart
39	chr7:127673400-127675600	Weak transcription	HSMM	muscle
40	chr7:127673400-127680600	Weak transcription	Brain Substantia Nigra	brain
41	chr7:127673400-127681000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:127673400-127682200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:127673400-127682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:127673400-127682400	Weak transcription	Placenta	Placenta
45	chr7:127673400-127684000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:127673400-127684000	Weak transcription	Left Ventricle	heart
47	chr7:127673600-127675600	Weak transcription	Brain Anterior Caudate	brain
48	chr7:127673600-127676000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:127673600-127676200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:127673600-127679200	Weak transcription	Fetal Intestine Large	intestine

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