Variant report

Variant	rs1886638
Chromosome Location	chr1:173473056-173473057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173445909..173448174-chr1:173472992..173475545,2	MCF-7	breast:
2	chr1:173456168..173461242-chr1:173467676..173473413,6	K562	blood:
3	chr1:173471541..173474738-chr1:173476002..173477727,3	MCF-7	breast:
4	chr1:173455943..173458874-chr1:173472089..173474445,2	MCF-7	breast:
5	chr1:173444700..173449124-chr1:173472471..173476984,5	MCF-7	breast:
6	chr1:173454021..173455524-chr1:173471878..173474498,2	K562	blood:
7	chr1:173445753..173447978-chr1:173472675..173475693,4	K562	blood:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10753082	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753083	0.96[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10912633	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912650	0.84[AMR][1000 genomes]
rs12075314	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080722	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461022	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461024	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461025	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1547154	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570813	0.82[AMR][1000 genomes]
rs4382766	0.82[YRI][hapmap]
rs4405161	1.00[JPT][hapmap]
rs4472784	1.00[JPT][hapmap]
rs4573551	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4916366	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916367	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916371	0.82[AMR][1000 genomes]
rs7314	0.84[YRI][hapmap]
rs7535963	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540065	0.86[YRI][hapmap]
rs7551305	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912768	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425411	1.00[JPT][hapmap];0.92[ASN][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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173448000-173477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:173458600-173475600	Weak transcription	Fetal Kidney	kidney
3	chr1:173458600-173476600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:173459400-173474000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:173459400-173475400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:173466400-173475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:173471000-173474200	Enhancers	Liver	Liver
8	chr1:173471400-173473200	Enhancers	HepG2	liver
9	chr1:173472400-173473200	Enhancers	Colon Smooth Muscle	Colon
10	chr1:173472400-173473200	Enhancers	K562	blood
11	chr1:173472400-173473800	Enhancers	Adipose Nuclei	Adipose
12	chr1:173472400-173474000	Enhancers	Stomach Smooth Muscle	stomach
13	chr1:173472600-173473200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:173472600-173473200	Enhancers	NHDF-Ad	bronchial
15	chr1:173472600-173473800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:173472600-173474000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:173472800-173473400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:173472800-173473800	Enhancers	Stomach Mucosa	stomach
19	chr1:173472800-173474800	Weak transcription	HSMMtube	muscle
20	chr1:173472800-173475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:173473000-173473200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:173473000-173473200	Enhancers	NHLF	lung
23	chr1:173473000-173473400	Enhancers	Placenta	Placenta
24	chr1:173473000-173473600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:173473000-173473600	Enhancers	Fetal Brain Male	brain
26	chr1:173473000-173473800	Flanking Active TSS	Hela-S3	cervix
27	chr1:173473000-173474000	Enhancers	Fetal Brain Female	brain

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