Variant report

Variant	rs930448
Chromosome Location	chr1:120316863-120316864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120315172..120317615-chr17:59486307..59488935,2	MCF-7	breast:
2	chr1:120315709..120317268-chr1:120336953..120338874,2	MCF-7	breast:
3	chr1:120307185..120310919-chr1:120314740..120318225,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134240	Chromatin interaction
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1163542	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1163543	0.97[EUR][1000 genomes]
rs1163544	0.97[EUR][1000 genomes]
rs1163550	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1177389	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123085	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12132674	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1660607	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1814447	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582779	0.98[EUR][1000 genomes]
rs2582780	0.97[EUR][1000 genomes]
rs2582782	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2582784	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2582785	0.95[CEU][hapmap];0.99[EUR][1000 genomes]
rs2582786	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582790	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2843014	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843015	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs2843016	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56239558	0.89[ASN][1000 genomes]
rs61789690	0.85[ASN][1000 genomes]
rs72695189	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs753425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935060	1.00[EUR][1000 genomes]
rs978730	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120311600-120318800	Enhancers	Fetal Intestine Large	intestine
2	chr1:120311800-120317800	Enhancers	HepG2	liver
3	chr1:120311800-120319600	Enhancers	Fetal Intestine Small	intestine
4	chr1:120311800-120324800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:120311800-120325400	Weak transcription	Lung	lung
6	chr1:120312000-120318600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:120313400-120317400	Enhancers	Fetal Lung	lung
8	chr1:120314400-120318000	Weak transcription	Colonic Mucosa	Colon
9	chr1:120314400-120322600	Weak transcription	Right Atrium	heart
10	chr1:120314600-120321800	Weak transcription	Fetal Stomach	stomach
11	chr1:120314600-120324800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:120315200-120317000	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:120315200-120318400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:120315400-120317000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:120315400-120318000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:120315600-120317800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:120315600-120318400	Enhancers	Stomach Mucosa	stomach
18	chr1:120315800-120317000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:120315800-120317200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:120315800-120317200	Enhancers	Fetal Heart	heart
21	chr1:120315800-120318200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:120315800-120322000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:120316000-120317000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:120316000-120317000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:120316000-120317000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:120316000-120317000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:120316000-120317000	Enhancers	HSMMtube	muscle
28	chr1:120316000-120317000	Enhancers	NHEK	skin
29	chr1:120316000-120317400	Enhancers	Fetal Kidney	kidney
30	chr1:120316200-120317000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:120316200-120317000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:120316200-120317000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:120316200-120317000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:120316200-120317000	Enhancers	Osteobl	bone
35	chr1:120316200-120317200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:120316200-120317200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:120316200-120317400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:120316200-120317400	Enhancers	Fetal Muscle Leg	muscle
39	chr1:120316200-120317400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:120316200-120317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:120316400-120317000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:120316400-120317000	Enhancers	NHLF	lung
43	chr1:120316400-120317400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr1:120316400-120318400	Enhancers	Liver	Liver
45	chr1:120316600-120317000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:120316600-120317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:120316800-120317000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:120316800-120317000	Enhancers	Hela-S3	cervix
49	chr1:120316800-120317200	Weak transcription	Placenta	Placenta
50	chr1:120316800-120317800	Weak transcription	Pancreas	Pancrea

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