Variant report

Variant	rs10915871
Chromosome Location	chr1:225943874-225943875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225942841..225944602-chr1:225978711..225981243,2	K562	blood:
2	chr1:225942220..225946918-chr1:225947468..225951068,4	K562	blood:
3	chr1:225848350..225851171-chr1:225941340..225944244,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10915869	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915874	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10915875	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12021669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12021809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023140	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12023203	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12023665	0.86[CEU][hapmap]
rs12025075	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12025085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12025267	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12026657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029847	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12031637	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12032511	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12034342	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12038476	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12039184	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12042000	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042778	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044217	0.94[ASN][1000 genomes]
rs12047520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12048908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12562612	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1849685	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1857008	0.86[CEU][hapmap]
rs2078389	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3738035	1.00[AFR][1000 genomes]
rs3753650	1.00[AFR][1000 genomes]
rs4557929	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61849043	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61849046	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61849047	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61851667	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs716966	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225935000-225949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:225938600-225945200	Weak transcription	Small Intestine	intestine
3	chr1:225939200-225949600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:225939800-225944800	Enhancers	HepG2	liver
5	chr1:225939800-225945800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:225941000-225944400	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:225942200-225944000	Enhancers	Placenta	Placenta
8	chr1:225942400-225944800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr1:225942600-225944000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:225942600-225944000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:225942600-225944000	Enhancers	Fetal Lung	lung
12	chr1:225942600-225944000	Enhancers	Fetal Thymus	thymus
13	chr1:225942600-225944000	Enhancers	HUVEC	blood vessel
14	chr1:225942600-225944200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:225942600-225944200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:225942600-225944200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:225942600-225944200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:225942600-225944200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:225942600-225944200	Enhancers	Fetal Muscle Leg	muscle
20	chr1:225942600-225944200	Enhancers	Ovary	ovary
21	chr1:225942600-225944200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:225942600-225944200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:225942600-225944200	Enhancers	HSMM	muscle
24	chr1:225942600-225944200	Enhancers	NHLF	lung
25	chr1:225942600-225944400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:225942600-225944400	Enhancers	Left Ventricle	heart
27	chr1:225942600-225944400	Enhancers	NHDF-Ad	bronchial
28	chr1:225942600-225944400	Enhancers	Osteobl	bone
29	chr1:225942600-225944800	Enhancers	Adipose Nuclei	Adipose
30	chr1:225942800-225944000	Enhancers	Fetal Intestine Large	intestine
31	chr1:225942800-225944000	Enhancers	Right Atrium	heart
32	chr1:225942800-225944000	Enhancers	A549	lung
33	chr1:225942800-225944200	Enhancers	Right Ventricle	heart
34	chr1:225942800-225944400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:225942800-225944400	Enhancers	Spleen	Spleen
36	chr1:225942800-225944400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:225943000-225944000	Enhancers	Fetal Stomach	stomach
38	chr1:225943000-225944000	Enhancers	HSMMtube	muscle
39	chr1:225943200-225944400	Enhancers	Lung	lung
40	chr1:225943200-225944600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:225943200-225946600	Enhancers	Fetal Muscle Trunk	muscle
42	chr1:225943400-225945600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:225943400-225949400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:225943400-225949800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:225943400-225951800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:225943600-225944000	Flanking Active TSS	NH-A	brain
47	chr1:225943600-225944400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:225943600-225944400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:225943600-225944400	Enhancers	Hela-S3	cervix
50	chr1:225943600-225945200	Weak transcription	Fetal Intestine Small	intestine

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