Variant report

Variant	rs4915769
Chromosome Location	chr1:62107558-62107559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62106350..62108369-chr1:62114638..62116326,2	K562	blood:
2	chr1:61519880..61523708-chr1:62105298..62109732,4	MCF-7	breast:
3	chr1:62107133..62108121-chr1:62124846..62125524,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4915595	0.88[ASN][1000 genomes]
rs946073	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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 target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	28 gene(s)	inside rSNPs	diseases
8	nsv1007318	chr1:62083960-62113102	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1831777	chr1:62086216-62119201	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv508226	chr1:62091093-62140604	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv546377	chr1:62103021-62116913	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62103400-62108000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:62103400-62146400	Weak transcription	Gastric	stomach
3	chr1:62103800-62108000	Enhancers	Fetal Stomach	stomach
4	chr1:62103800-62108000	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:62104400-62108400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:62105200-62107800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:62105200-62109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:62105400-62108200	Weak transcription	Esophagus	oesophagus
9	chr1:62106200-62107800	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:62106400-62107600	Active TSS	Brain Anterior Caudate	brain
11	chr1:62106400-62107800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:62106600-62107600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:62106600-62107600	Active TSS	Brain Hippocampus Middle	brain
14	chr1:62106600-62107800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr1:62106600-62107800	Active TSS	Brain Substantia Nigra	brain
16	chr1:62106800-62107600	Active TSS	Fetal Brain Female	brain
17	chr1:62106800-62107600	Active TSS	GM12878-XiMat	blood
18	chr1:62106800-62107800	Active TSS	Primary B cells from cord blood	blood
19	chr1:62106800-62107800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:62106800-62108000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:62106800-62108000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:62106800-62108000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:62106800-62108200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:62106800-62108400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:62106800-62108600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:62106800-62108600	Enhancers	Fetal Thymus	thymus
27	chr1:62107000-62107600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:62107000-62107600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr1:62107000-62107600	Active TSS	Primary B cells from peripheral blood	blood
30	chr1:62107000-62107600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr1:62107000-62107600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr1:62107000-62107600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:62107000-62107600	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:62107000-62107600	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:62107000-62107600	Active TSS	Osteobl	bone
36	chr1:62107000-62107800	Flanking Active TSS	NHEK	skin
37	chr1:62107000-62108600	Enhancers	Fetal Brain Male	brain
38	chr1:62107200-62107600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr1:62107200-62107600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr1:62107200-62107600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:62107200-62107600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:62107200-62107600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr1:62107200-62107600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:62107200-62107600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr1:62107200-62107600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:62107200-62107600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:62107200-62107600	Active TSS	Duodenum Mucosa	Duodenum
48	chr1:62107200-62107600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:62107200-62107600	Weak transcription	Right Atrium	heart
50	chr1:62107200-62107600	Flanking Active TSS	HUVEC	blood vessel

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