Variant report

Variant	rs17020050
Chromosome Location	chr1:213128890-213128891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213127616..213130170-chr1:213132059..213134364,2	K562	blood:
2	chr1:213127202..213129591-chr1:213131577..213134286,2	K562	blood:
3	chr1:213123028..213126732-chr1:213127921..213134327,6	K562	blood:
4	chr1:213127494..213130464-chr1:213136589..213139155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143494	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17020092	0.87[AFR][1000 genomes]
rs17020145	0.87[AFR][1000 genomes]
rs17020161	0.87[AFR][1000 genomes]
rs17020182	0.87[AFR][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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213125200-213129400	Weak transcription	Thymus	Thymus
2	chr1:213125200-213132800	Weak transcription	Lung	lung
3	chr1:213125200-213134200	Weak transcription	Right Atrium	heart
4	chr1:213125600-213131000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:213125600-213131200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:213125600-213132600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:213125600-213141000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:213125800-213141000	Weak transcription	A549	lung
9	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:213126000-213134000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:213126200-213131200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:213126400-213129800	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
14	chr1:213126600-213129800	Genic enhancers	Fetal Muscle Leg	muscle
15	chr1:213126600-213140600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:213126800-213130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
18	chr1:213127000-213129000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:213127000-213129800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:213127000-213130000	Genic enhancers	HSMMtube	muscle
21	chr1:213127000-213136400	Weak transcription	Fetal Brain Male	brain
22	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
23	chr1:213127200-213129000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:213127200-213130400	Weak transcription	Fetal Kidney	kidney
25	chr1:213127200-213131000	Weak transcription	HSMM	muscle
26	chr1:213127200-213132600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:213127400-213129200	Weak transcription	Brain Germinal Matrix	brain
28	chr1:213127400-213131000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:213127400-213140800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:213127600-213129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:213127600-213130400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:213127600-213131200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:213127800-213131200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:213128200-213129600	Genic enhancers	H9 Cell Line	embryonic stem cell
35	chr1:213128200-213130000	Flanking Active TSS	GM12878-XiMat	blood
36	chr1:213128400-213129800	Genic enhancers	H1 Cell Line	embryonic stem cell
37	chr1:213128400-213130600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:213128400-213140800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:213128600-213129400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:213128600-213130000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:213128600-213130000	Enhancers	Fetal Thymus	thymus
42	chr1:213128600-213131600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:213128800-213133000	Weak transcription	Fetal Intestine Large	intestine

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