Variant report

Variant	rs17419999
Chromosome Location	chr1:158013998-158013999
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10796989	1.00[CEU][hapmap]
rs10796990	0.89[CEU][hapmap]
rs10796991	1.00[CEU][hapmap]
rs10796993	0.89[CEU][hapmap]
rs10908613	0.89[CEU][hapmap]
rs10908614	0.89[CEU][hapmap]
rs11264879	0.89[CEU][hapmap]
rs17419936	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453741	0.91[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1925033	0.89[CEU][hapmap]
rs4971122	0.91[CEU][hapmap]
rs6427417	0.89[CEU][hapmap]
rs6686246	0.89[CEU][hapmap]

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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
3	chr1:158002400-158025400	Weak transcription	Fetal Brain Female	brain
4	chr1:158008000-158014800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:158008000-158019600	Weak transcription	Colonic Mucosa	Colon
6	chr1:158008200-158015000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:158008200-158018400	Weak transcription	Spleen	Spleen
8	chr1:158008200-158023000	Weak transcription	A549	lung
9	chr1:158008200-158024600	Weak transcription	Placenta	Placenta
10	chr1:158008800-158015000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:158009400-158014800	Weak transcription	Left Ventricle	heart
12	chr1:158009400-158024400	Weak transcription	Hela-S3	cervix
13	chr1:158009600-158022600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:158010000-158014600	Weak transcription	NHDF-Ad	bronchial
15	chr1:158010000-158015000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:158010000-158015000	Weak transcription	HSMMtube	muscle
17	chr1:158010000-158015200	Weak transcription	HUVEC	blood vessel
18	chr1:158010000-158023000	Weak transcription	HSMM	muscle
19	chr1:158010200-158014600	Weak transcription	Osteobl	bone
20	chr1:158010200-158020600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:158011000-158015400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:158011000-158017200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:158011200-158014800	Weak transcription	HMEC	breast
24	chr1:158011400-158014200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:158012200-158019800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:158012400-158014000	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:158012400-158017200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:158012600-158014800	Weak transcription	NHLF	lung
29	chr1:158012600-158015200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:158012800-158015800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:158012800-158016800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:158012800-158017000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:158012800-158017200	Enhancers	Lung	lung
34	chr1:158013000-158014000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:158013000-158014000	Enhancers	K562	blood
36	chr1:158013000-158014200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:158013000-158014200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:158013000-158014200	Enhancers	Colon Smooth Muscle	Colon
39	chr1:158013000-158014400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:158013000-158014800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:158013000-158015200	Enhancers	Fetal Muscle Trunk	muscle
42	chr1:158013000-158016200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:158013000-158016400	Enhancers	Fetal Muscle Leg	muscle
44	chr1:158013000-158016600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:158013000-158016600	Enhancers	Right Atrium	heart
46	chr1:158013000-158017200	Enhancers	Ovary	ovary
47	chr1:158013000-158020600	Enhancers	Fetal Lung	lung
48	chr1:158013200-158014000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:158013200-158014000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:158013200-158014000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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