Variant report

Variant	rs17418566
Chromosome Location	chr1:157980997-157980998
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	chr1:157978271..157979857-chr1:157979994..157981578,2	K562	blood:
2	chr1:157980406..157983368-chr1:157988556..157991541,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17452391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453287	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1925037	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6671484	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs912645	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs912646	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs912647	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs927700	1.00[CEU][hapmap];0.88[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157965800-157983200	Weak transcription	Dnd41	blood
2	chr1:157968800-157982200	Enhancers	Placenta	Placenta
3	chr1:157969000-157988000	Weak transcription	Psoas Muscle	Psoas
4	chr1:157969800-157982200	Enhancers	Fetal Heart	heart
5	chr1:157975000-157981800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:157975400-157981600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:157975400-157982000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:157976000-157981600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:157976000-157981800	Enhancers	Right Atrium	heart
11	chr1:157976200-157981800	Enhancers	Fetal Muscle Trunk	muscle
12	chr1:157976200-157982000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:157976200-157982000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:157976200-157982600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:157976200-157982800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:157976400-157981400	Genic enhancers	Fetal Intestine Small	intestine
17	chr1:157976400-157981800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:157976400-157981800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:157976400-157982000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:157976600-157982400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:157976800-157981600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:157976800-157981800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:157977000-157982000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:157977000-157983800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:157977200-157981400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:157977200-157981800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:157977200-157982000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:157977400-157981800	Enhancers	Esophagus	oesophagus
29	chr1:157977400-157982200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:157977400-157982200	Enhancers	Fetal Intestine Large	intestine
31	chr1:157978000-157982200	Enhancers	Aorta	Aorta
32	chr1:157978000-157982600	Enhancers	Fetal Kidney	kidney
33	chr1:157978400-157981000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:157978400-157981200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:157978400-157981200	Weak transcription	Stomach Mucosa	stomach
36	chr1:157978600-157983200	Weak transcription	Small Intestine	intestine
37	chr1:157978800-157982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:157979200-157982000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:157979200-157983200	Weak transcription	Brain Germinal Matrix	brain
40	chr1:157979400-157981000	Flanking Active TSS	Hela-S3	cervix
41	chr1:157979400-157981400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:157979400-157981600	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr1:157979400-157981600	Flanking Active TSS	NH-A	brain
44	chr1:157979400-157981800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:157979600-157981000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:157979600-157981000	Weak transcription	Colonic Mucosa	Colon
47	chr1:157979600-157981200	Weak transcription	Right Ventricle	heart
48	chr1:157979600-157981200	Flanking Active TSS	HMEC	breast
49	chr1:157979600-157981200	Flanking Active TSS	HUVEC	blood vessel
50	chr1:157979600-157981600	Enhancers	Rectal Mucosa Donor 31	rectum

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