Variant report

Variant	rs17020062
Chromosome Location	chr1:213141154-213141155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213140835..213141998-chr1:213168527..213169421,4	K562	blood:
2	chr1:213140541..213143101-chr1:213187498..213189193,2	MCF-7	breast:
3	chr1:212872476..212873206-chr1:213140873..213141422,2	K562	blood:
4	chr1:212965435..212968040-chr1:213139784..213142502,2	K562	blood:
5	chr1:213123297..213125908-chr1:213140994..213143344,2	MCF-7	breast:
6	chr1:212838503..212839330-chr1:213140775..213141553,2	K562	blood:

Variant related genes	Relation type
ENSG00000203705	Chromatin interaction
ENSG00000143494	Chromatin interaction
ENSG00000237980	Chromatin interaction
ENSG00000174606	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11802593	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11809007	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12064585	1.00[YRI][hapmap]
rs12091457	1.00[YRI][hapmap]
rs3123306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3738804	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41309631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41309633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56289940	0.82[EUR][1000 genomes]
rs58256189	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58879807	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59489266	0.82[ASN][1000 genomes]
rs59676624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59755371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60620122	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61385792	0.82[ASN][1000 genomes]
rs61583935	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832433	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73084268	0.82[EUR][1000 genomes]
rs7554696	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv11434	chr1:213131581-213156027	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
3	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
4	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
5	chr1:213129000-213141600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
7	chr1:213131400-213153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:213132000-213141400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:213133000-213146200	Weak transcription	Esophagus	oesophagus
10	chr1:213133200-213153400	Weak transcription	Lung	lung
11	chr1:213133400-213153800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:213133600-213161600	Weak transcription	Fetal Intestine Large	intestine
13	chr1:213134600-213152200	Weak transcription	Right Atrium	heart
14	chr1:213135000-213144800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:213135600-213141400	Genic enhancers	Fetal Muscle Leg	muscle
16	chr1:213136600-213141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:213136800-213142200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:213137000-213141400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:213137800-213154200	Strong transcription	Brain Germinal Matrix	brain
20	chr1:213138000-213144600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:213138800-213141600	Genic enhancers	GM12878-XiMat	blood
22	chr1:213139200-213141600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:213139200-213142000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:213139200-213142200	Genic enhancers	H1 Cell Line	embryonic stem cell
25	chr1:213139200-213143800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:213139600-213142000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:213139800-213141400	Genic enhancers	H9 Cell Line	embryonic stem cell
28	chr1:213140000-213142400	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:213140000-213144600	Weak transcription	Fetal Kidney	kidney
30	chr1:213140400-213142400	Enhancers	Fetal Thymus	thymus
31	chr1:213140600-213141600	Genic enhancers	HSMMtube	muscle
32	chr1:213140600-213142400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:213140600-213143600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:213140800-213141800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:213140800-213142000	Enhancers	Hela-S3	cervix
36	chr1:213140800-213142400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:213140800-213142400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:213140800-213142400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:213141000-213141200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr1:213141000-213141200	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr1:213141000-213141600	Strong transcription	Fetal Brain Male	brain
42	chr1:213141000-213141600	Genic enhancers	HSMM	muscle
43	chr1:213141000-213141800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:213141000-213141800	Enhancers	A549	lung
45	chr1:213141000-213142000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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