Variant report

Variant	rs1220381
Chromosome Location	chr1:9948405-9948406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9944846..9946989-chr1:9947780..9950695,2	MCF-7	breast:
2	chr1:9944042..9945752-chr1:9947659..9949631,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1220382	0.84[EUR][1000 genomes]
rs1220384	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1220392	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1220393	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1220396	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1220405	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1220411	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1220412	0.87[EUR][1000 genomes]
rs1220413	0.82[EUR][1000 genomes]
rs1220418	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1372106	0.84[EUR][1000 genomes]
rs1470160	0.82[EUR][1000 genomes]
rs1660735	0.84[EUR][1000 genomes]
rs2083577	0.82[EUR][1000 genomes]
rs2379108	0.84[EUR][1000 genomes]
rs2486084	0.89[EUR][1000 genomes]
rs2582980	0.84[EUR][1000 genomes]
rs2582981	0.83[EUR][1000 genomes]
rs3120822	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs935073	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs935074	0.82[EUR][1000 genomes]
rs935075	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs946275	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9930800-9949600	Weak transcription	Fetal Lung	lung
2	chr1:9932600-9960200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:9935400-9948800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:9935600-9948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:9935600-9949200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:9935600-9949400	Weak transcription	HUVEC	blood vessel
7	chr1:9935600-9950200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:9935600-9960800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:9935800-9950800	Weak transcription	Aorta	Aorta
10	chr1:9936000-9948800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:9936000-9950000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:9936000-9950000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:9936200-9949800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:9936400-9960200	Weak transcription	Liver	Liver
15	chr1:9937200-9950000	Weak transcription	Fetal Brain Male	brain
16	chr1:9938400-9950000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:9938600-9948800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:9938600-9949000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:9938600-9952800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:9938800-9949600	Weak transcription	Stomach Mucosa	stomach
21	chr1:9940800-9952400	Strong transcription	Fetal Intestine Small	intestine
22	chr1:9942000-9948800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:9942400-9950000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:9942400-9950600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:9942600-9949800	Weak transcription	Osteobl	bone
26	chr1:9942600-9950000	Weak transcription	HepG2	liver
27	chr1:9942800-9949200	Weak transcription	NHLF	lung
28	chr1:9943000-9948800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:9943000-9949800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:9943000-9960200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:9943200-9961600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:9943400-9949000	Weak transcription	Thymus	Thymus
33	chr1:9943600-9960800	Weak transcription	Primary T cells from cord blood	blood
34	chr1:9944000-9948800	Weak transcription	Pancreas	Pancrea
35	chr1:9944200-9949200	Weak transcription	Spleen	Spleen
36	chr1:9944600-9950600	Weak transcription	Ovary	ovary
37	chr1:9944800-9948600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:9945000-9949200	Strong transcription	Fetal Stomach	stomach
39	chr1:9945200-9948600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:9945200-9948800	Weak transcription	Fetal Thymus	thymus
41	chr1:9945200-9948800	Weak transcription	Right Atrium	heart
42	chr1:9945200-9949000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:9945200-9950000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:9945200-9950000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:9945200-9950000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:9945400-9950000	Weak transcription	Fetal Brain Female	brain
47	chr1:9946600-9950600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:9946800-9948600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:9946800-9948600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:9946800-9948600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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