Variant report

Variant	rs73721285
Chromosome Location	chr7:127674999-127675000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:127674636-127676469	SK-N-SH	brain:	n/a	chr7:127675966-127675987
2	POLR2A	chr7:127674914-127675041	K562	blood:	n/a	n/a
3	RAD21	chr7:127674615-127678389	SK-N-SH	brain:	n/a	chr7:127675967-127675974 chr7:127678092-127678101 chr7:127678092-127678106
4	SMC3	chr7:127674315-127676929	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127673149..127675504-chr7:127681754..127684227,2	MCF-7	breast:
2	chr7:127666110..127668774-chr7:127674158..127676432,2	K562	blood:
3	chr7:127666110..127669340-chr7:127673259..127677722,5	K562	blood:
4	chr7:127645845..127647597-chr7:127674557..127676865,2	K562	blood:
5	chr7:127432543..127434957-chr7:127674318..127675845,2	MCF-7	breast:
6	chr7:127669395..127671231-chr7:127673315..127675845,3	K562	blood:
7	chr7:127674537..127676046-chr7:127845296..127847956,2	MCF-7	breast:

Variant related genes	Relation type
LRRC4	TF binding region
ENSG00000128594	Chromatin interaction
ENSG00000207705	Chromatin interaction
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55673039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55997549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56922858	0.81[AFR][1000 genomes]
rs57683992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57866092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58659499	0.81[AFR][1000 genomes]
rs60776739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60805384	0.81[AFR][1000 genomes]
rs60865612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61180975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721003	1.00[AMR][1000 genomes]
rs73721249	0.81[AFR][1000 genomes]
rs73721251	0.81[AFR][1000 genomes]
rs73721255	0.81[AFR][1000 genomes]
rs73721260	0.81[AFR][1000 genomes]
rs73721262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721265	0.81[AFR][1000 genomes]
rs73721267	0.81[AFR][1000 genomes]
rs73721268	0.87[AFR][1000 genomes]
rs73721270	0.87[AFR][1000 genomes]
rs73721274	0.87[AFR][1000 genomes]
rs73721275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721283	1.00[AMR][1000 genomes]
rs73721284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721290	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:75 , 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	chr7:127672200-127678200	Weak transcription	Liver	Liver
7	chr7:127672200-127681000	Weak transcription	NHEK	skin
8	chr7:127672200-127681400	Weak transcription	NHDF-Ad	bronchial
9	chr7:127672600-127695400	Weak transcription	Aorta	Aorta
10	chr7:127672800-127682200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:127673000-127675400	Weak transcription	HSMMtube	muscle
12	chr7:127673000-127676000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:127673000-127677600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:127673000-127680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:127673000-127681200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:127673000-127681800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:127673000-127692600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:127673000-127692800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:127673200-127675600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:127673200-127675800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:127673200-127678200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:127673200-127680800	Weak transcription	NHLF	lung
24	chr7:127673200-127681000	Weak transcription	HMEC	breast
25	chr7:127673200-127681800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:127673200-127682400	Weak transcription	Lung	lung
27	chr7:127673200-127682400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:127673200-127684000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:127673200-127684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:127673200-127692600	Weak transcription	Right Atrium	heart
31	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
32	chr7:127673400-127675000	Weak transcription	Right Ventricle	heart
33	chr7:127673400-127675600	Weak transcription	HSMM	muscle
34	chr7:127673400-127680600	Weak transcription	Brain Substantia Nigra	brain
35	chr7:127673400-127681000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:127673400-127682200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:127673400-127682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:127673400-127682400	Weak transcription	Placenta	Placenta
39	chr7:127673400-127684000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:127673400-127684000	Weak transcription	Left Ventricle	heart
41	chr7:127673600-127675600	Weak transcription	Brain Anterior Caudate	brain
42	chr7:127673600-127676000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:127673600-127676200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:127673600-127679200	Weak transcription	Fetal Intestine Large	intestine
45	chr7:127673600-127680800	Weak transcription	Brain Angular Gyrus	brain
46	chr7:127673600-127680800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:127673600-127681000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:127673600-127681200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:127673600-127681800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:127673600-127682400	Weak transcription	Spleen	Spleen

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