Variant report

Variant	rs6954389
Chromosome Location	chr7:127740064-127740065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127737543..127740197-chr7:127740336..127742903,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12706825	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35045093	0.87[EUR][1000 genomes]
rs35361134	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731395	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62484016	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467159	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6467160	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6467162	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6467163	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6953698	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6954161	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs759710	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7780024	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7792971	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7793071	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7803045	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7803473	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7811971	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127707800-127742200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127724600-127743600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:127726000-127743600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:127730000-127742800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:127730400-127740600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:127730400-127743800	Weak transcription	HSMM	muscle
7	chr7:127731400-127743600	Weak transcription	Brain Substantia Nigra	brain
8	chr7:127731800-127743600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:127732200-127743600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:127732800-127743600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:127733000-127740600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:127733200-127743600	Weak transcription	Primary B cells from cord blood	blood
13	chr7:127733200-127743800	Weak transcription	Small Intestine	intestine
14	chr7:127733400-127740400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:127733600-127743400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:127733600-127743600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:127733800-127740400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:127733800-127743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:127734000-127740400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:127734000-127741200	Weak transcription	Fetal Lung	lung
21	chr7:127734200-127743600	Weak transcription	NHDF-Ad	bronchial
22	chr7:127734400-127744000	Weak transcription	A549	lung
23	chr7:127734400-127748200	Weak transcription	Dnd41	blood
24	chr7:127734600-127743600	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:127734600-127743600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:127734800-127740400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:127734800-127743600	Weak transcription	Brain Anterior Caudate	brain
28	chr7:127734800-127743600	Weak transcription	HUVEC	blood vessel
29	chr7:127735000-127740600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:127735000-127741200	Weak transcription	Aorta	Aorta
31	chr7:127735000-127743600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:127735000-127743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:127735200-127740600	Weak transcription	Spleen	Spleen
34	chr7:127735200-127742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:127735200-127743000	Weak transcription	Right Atrium	heart
36	chr7:127735600-127741800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:127735800-127740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:127735800-127740400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:127735800-127740600	Weak transcription	Primary T cells from cord blood	blood
40	chr7:127735800-127743600	Weak transcription	Ovary	ovary
41	chr7:127736200-127743600	Weak transcription	HMEC	breast
42	chr7:127736400-127741600	Weak transcription	Fetal Thymus	thymus
43	chr7:127736400-127742400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:127736400-127743600	Weak transcription	Esophagus	oesophagus
45	chr7:127736400-127743600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:127736600-127740400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:127736600-127740400	Weak transcription	Gastric	stomach
48	chr7:127736600-127741000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:127736600-127741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:127736600-127741400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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