Variant report

Variant	rs6696784
Chromosome Location	chr1:114231398-114231399
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	chr1:114223041..114225984-chr1:114230466..114232583,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10858016	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11102671	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1111695	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1230682	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1230686	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2146019	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2185971	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2273758	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2797414	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3789598	0.90[EUR][1000 genomes]
rs7556622	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[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	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
2	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
4	chr1:114183000-114235800	Weak transcription	Dnd41	blood
5	chr1:114202000-114241400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:114203000-114232000	Weak transcription	Fetal Brain Female	brain
7	chr1:114203000-114237800	Weak transcription	NH-A	brain
8	chr1:114203200-114232200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:114203200-114237600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
11	chr1:114203400-114237800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:114209800-114232400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:114211200-114231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:114211600-114234600	Weak transcription	Brain Germinal Matrix	brain
15	chr1:114213600-114232000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:114213600-114241600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:114214800-114232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:114215400-114235800	Weak transcription	Esophagus	oesophagus
19	chr1:114215400-114235800	Weak transcription	Lung	lung
20	chr1:114216000-114247000	Weak transcription	HMEC	breast
21	chr1:114216200-114241600	Weak transcription	Pancreas	Pancrea
22	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:114216400-114232000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:114216400-114250400	Weak transcription	Placenta	Placenta
25	chr1:114218000-114235800	Weak transcription	Psoas Muscle	Psoas
26	chr1:114218200-114240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:114220200-114232200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:114220400-114263800	Weak transcription	Fetal Kidney	kidney
29	chr1:114220600-114234400	Weak transcription	HSMMtube	muscle
30	chr1:114220600-114235800	Weak transcription	HSMM	muscle
31	chr1:114220600-114237600	Weak transcription	Fetal Heart	heart
32	chr1:114221000-114236000	Weak transcription	A549	lung
33	chr1:114224000-114232400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:114224000-114241600	Weak transcription	Left Ventricle	heart
35	chr1:114224600-114231800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:114224600-114232000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:114224600-114232400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:114224600-114236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:114224800-114232000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:114224800-114237600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:114224800-114237600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:114224800-114238000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:114225200-114231800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:114225200-114243800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:114225400-114231800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:114225800-114236800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:114226200-114232200	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:114226600-114241600	Weak transcription	Gastric	stomach
49	chr1:114226800-114237000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:114227000-114232000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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