Variant report

Variant	rs57350404
Chromosome Location	chr1:120510377-120510378
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120489170..120492877-chr1:120510169..120513121,3	K562	blood:
2	chr1:120413185..120414823-chr1:120510316..120511509,11	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55648721	1.00[AFR][1000 genomes]
rs55787603	1.00[AFR][1000 genomes]
rs55954768	1.00[AFR][1000 genomes]
rs56323802	1.00[AFR][1000 genomes]
rs57257610	1.00[AFR][1000 genomes]
rs59233270	1.00[AFR][1000 genomes]
rs60540199	1.00[AFR][1000 genomes]
rs74115515	0.83[AFR][1000 genomes]
rs74117504	0.83[AFR][1000 genomes]
rs74117566	1.00[AFR][1000 genomes]
rs74117579	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
2	chr1:120478800-120511000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:120479000-120511000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr1:120488800-120510400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr1:120490000-120512400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr1:120490000-120514400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:120490000-120517600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:120490200-120512600	Strong transcription	Primary T cells from cord blood	blood
9	chr1:120490200-120512600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:120490200-120521000	Strong transcription	Primary B cells from cord blood	blood
11	chr1:120490400-120512600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:120490800-120515000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:120491200-120510800	Weak transcription	Brain Germinal Matrix	brain
14	chr1:120491200-120538800	Weak transcription	Fetal Brain Male	brain
15	chr1:120493600-120512200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:120499200-120511600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:120499400-120514600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:120500200-120515400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:120500600-120510800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:120500800-120510800	Strong transcription	Placenta	Placenta
21	chr1:120502400-120511200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:120503600-120510600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:120504600-120512200	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr1:120504600-120515000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:120504600-120517600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:120504800-120510400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:120504800-120514000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:120505000-120510600	Strong transcription	HMEC	breast
29	chr1:120505000-120511200	Strong transcription	Fetal Thymus	thymus
30	chr1:120505200-120511200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:120505200-120512600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:120505200-120515200	Strong transcription	Dnd41	blood
33	chr1:120505400-120510600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:120505400-120510800	Strong transcription	NHEK	skin
35	chr1:120505400-120511600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:120505400-120512000	Strong transcription	Fetal Intestine Large	intestine
37	chr1:120505400-120512600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:120505400-120514600	Strong transcription	Thymus	Thymus
39	chr1:120505400-120514800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:120505600-120510800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:120505600-120510800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:120505600-120514600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:120505600-120514600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:120505800-120510800	Strong transcription	Colonic Mucosa	Colon
45	chr1:120506000-120510600	Strong transcription	Hela-S3	cervix
46	chr1:120506000-120510800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:120506000-120510800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:120506200-120512600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:120506400-120512200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:120506600-120511200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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