Variant report

Variant	rs9970807
Chromosome Location	chr1:56965664-56965665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56958554..56961022-chr1:56963206..56965954,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1261412	1.00[CHD][hapmap]
rs1319274	1.00[CHD][hapmap]
rs1361823	1.00[CHD][hapmap]
rs17114036	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17114046	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1777276	1.00[CHD][hapmap]
rs2404715	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4634932	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55694910	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55869368	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56170783	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56186267	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56322312	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56348932	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664303	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72664304	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72664318	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72664324	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664332	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664335	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664341	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664353	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664354	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664355	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664358	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56957400-56971800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:56957600-56971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:56957800-56971800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
5	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:56958200-56971600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:56958400-56968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:56958600-56968000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:56958800-56971600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:56959000-56966200	Strong transcription	HSMM	muscle
12	chr1:56959200-56968000	Strong transcription	Osteobl	bone
13	chr1:56959200-56968400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:56959200-56969000	Genic enhancers	Liver	Liver
15	chr1:56959400-56972000	Strong transcription	Fetal Stomach	stomach
16	chr1:56959600-56967200	Weak transcription	Fetal Brain Male	brain
17	chr1:56959800-56972800	Weak transcription	Dnd41	blood
18	chr1:56960400-56967200	Weak transcription	K562	blood
19	chr1:56960800-56976000	Genic enhancers	HepG2	liver
20	chr1:56961200-56967600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:56961400-56971400	Weak transcription	Primary B cells from cord blood	blood
22	chr1:56961400-56972600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:56961400-56972800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:56961600-56971800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:56961800-56971600	Weak transcription	Colonic Mucosa	Colon
26	chr1:56962000-56967200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:56962000-56971400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:56962000-56971800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:56962200-56967400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:56962200-56967800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:56962400-56966000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:56962400-56969000	Weak transcription	Lung	lung
33	chr1:56962400-56969400	Weak transcription	Pancreas	Pancrea
34	chr1:56962400-56970200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:56962400-56970800	Weak transcription	HSMMtube	muscle
36	chr1:56962400-56971600	Weak transcription	Esophagus	oesophagus
37	chr1:56962400-56971600	Weak transcription	Ovary	ovary
38	chr1:56962400-56971600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:56962400-56976000	Weak transcription	NH-A	brain
40	chr1:56962600-56966000	Weak transcription	Aorta	Aorta
41	chr1:56962600-56966200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:56962600-56967800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:56962600-56969000	Weak transcription	Fetal Intestine Small	intestine
44	chr1:56962600-56969600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:56962600-56972200	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:56962800-56968400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:56962800-56970800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:56962800-56970800	Weak transcription	Fetal Kidney	kidney
49	chr1:56963000-56967200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:56963000-56968000	Weak transcription	Monocytes-CD14+_RO01746	blood

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