Variant report

Variant	rs10796992
Chromosome Location	chr1:158010212-158010213
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10796989	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796990	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908614	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12047033	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1925033	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4246542	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4971122	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6686246	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][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	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:157999000-158013000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:158001200-158011800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
5	chr1:158002400-158025400	Weak transcription	Fetal Brain Female	brain
6	chr1:158007800-158013000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:158008000-158011800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:158008000-158012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:158008000-158014800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:158008000-158019600	Weak transcription	Colonic Mucosa	Colon
11	chr1:158008200-158011400	Weak transcription	Lung	lung
12	chr1:158008200-158013000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:158008200-158013000	Weak transcription	Right Atrium	heart
14	chr1:158008200-158015000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:158008200-158018400	Weak transcription	Spleen	Spleen
16	chr1:158008200-158023000	Weak transcription	A549	lung
17	chr1:158008200-158024600	Weak transcription	Placenta	Placenta
18	chr1:158008600-158012800	Weak transcription	Fetal Heart	heart
19	chr1:158008800-158012800	Weak transcription	Aorta	Aorta
20	chr1:158008800-158013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:158008800-158015000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:158009000-158013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:158009000-158013000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:158009200-158011400	Weak transcription	Fetal Stomach	stomach
25	chr1:158009200-158012400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:158009200-158013000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:158009200-158013000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:158009200-158013000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:158009200-158013000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:158009200-158013200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:158009200-158013600	Weak transcription	Fetal Kidney	kidney
32	chr1:158009400-158011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:158009400-158011400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:158009400-158012200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:158009400-158012200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:158009400-158012800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:158009400-158013000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:158009400-158013000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:158009400-158013000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:158009400-158013400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:158009400-158014800	Weak transcription	Left Ventricle	heart
42	chr1:158009400-158024400	Weak transcription	Hela-S3	cervix
43	chr1:158009600-158011000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:158009600-158011200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:158009600-158011400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:158009600-158011600	Weak transcription	Ovary	ovary
47	chr1:158009600-158011800	Weak transcription	NHLF	lung
48	chr1:158009600-158012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:158009600-158012400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:158009600-158012800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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