Variant report

Variant	rs1230680
Chromosome Location	chr1:114296770-114296771
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114293906..114295700-chr1:114296584..114298894,2	MCF-7	breast:
2	chr1:114295717..114297423-chr1:114329273..114331553,2	MCF-7	breast:
3	chr1:114294495..114297643-chr1:114353726..114356069,3	K562	blood:
4	chr1:114295783..114297917-chr1:114299943..114302562,2	MCF-7	breast:
5	chr1:114285065..114287961-chr1:114294303..114296878,2	MCF-7	breast:
6	chr1:114296143..114298781-chr1:114353726..114355245,2	K562	blood:
7	chr1:114245611..114248593-chr1:114296765..114298290,2	K562	blood:

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000081019	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10858016	0.84[AMR][1000 genomes]
rs10858017	0.97[AFR][1000 genomes]
rs10858019	0.81[AFR][1000 genomes]
rs12063216	0.94[AFR][1000 genomes]
rs1230678	0.97[AFR][1000 genomes]
rs1230679	0.86[AFR][1000 genomes]
rs1230682	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1230685	0.97[AFR][1000 genomes]
rs1230686	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1230687	0.80[AFR][1000 genomes]
rs1935838	0.83[AFR][1000 genomes]
rs2273758	0.83[AMR][1000 genomes]
rs2797412	0.97[AFR][1000 genomes]
rs2797414	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4565712	0.94[AFR][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	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
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
3	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:114258000-114300000	Weak transcription	Right Ventricle	heart
6	chr1:114261400-114300000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:114261400-114300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:114261400-114301000	Weak transcription	Lung	lung
9	chr1:114261600-114300200	Weak transcription	Brain Angular Gyrus	brain
10	chr1:114261600-114300600	Weak transcription	Aorta	Aorta
11	chr1:114261600-114300600	Weak transcription	Esophagus	oesophagus
12	chr1:114261600-114300600	Weak transcription	Gastric	stomach
13	chr1:114263600-114300000	Weak transcription	Fetal Lung	lung
14	chr1:114263600-114300400	Weak transcription	Fetal Intestine Large	intestine
15	chr1:114264000-114300400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:114264200-114300000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:114267400-114299400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:114267400-114300000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:114268400-114298000	Weak transcription	A549	lung
20	chr1:114268800-114299200	Weak transcription	Fetal Brain Female	brain
21	chr1:114272800-114300000	Weak transcription	Primary B cells from cord blood	blood
22	chr1:114277800-114299200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:114279800-114300200	Weak transcription	Fetal Kidney	kidney
24	chr1:114280400-114299000	Weak transcription	Brain Germinal Matrix	brain
25	chr1:114280400-114300000	Weak transcription	Psoas Muscle	Psoas
26	chr1:114280400-114301400	Weak transcription	Spleen	Spleen
27	chr1:114280600-114300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:114280600-114300200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:114280800-114300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:114281200-114299200	Weak transcription	Fetal Heart	heart
31	chr1:114281200-114300000	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:114281200-114300000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:114285600-114298600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:114287000-114299200	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:114287200-114300200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:114287200-114300200	Weak transcription	Brain Substantia Nigra	brain
37	chr1:114288200-114298800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:114288200-114300000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:114288400-114300000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:114288600-114299200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:114288800-114300200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:114288800-114300200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:114289000-114297400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:114289000-114300000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:114289200-114299200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:114289800-114299800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:114290000-114299000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:114290400-114297200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:114290400-114299000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:114290600-114296800	Weak transcription	Osteobl	bone

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