Variant report

Variant	rs2295995
Chromosome Location	chr1:228289976-228289977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228289389..228292049-chr1:228333496..228335357,2	K562	blood:
2	chr1:228284520..228292111-chr1:228324853..228335412,14	K562	blood:
3	chr1:228289424..228292369-chr1:228333748..228336393,2	MCF-7	breast:
4	chr1:228186714..228188137-chr1:228289568..228290450,5	MCF-7	breast:
5	chr1:228289288..228292230-chr1:228352223..228354730,2	MCF-7	breast:
6	chr1:228288459..228290327-chr1:228338206..228340411,2	K562	blood:
7	chr1:227921116..227923050-chr1:228289460..228292114,2	MCF-7	breast:
8	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
9	chr1:228289703..228291795-chr1:228462279..228463838,2	K562	blood:
10	chr1:228288054..228293498-chr1:228351743..228355627,9	K562	blood:
11	chr1:228286712..228292079-chr1:228327501..228330420,5	MCF-7	breast:
12	chr1:228288649..228293430-chr1:228325997..228329591,7	K562	blood:
13	chr1:228289454..228291459-chr1:228353037..228354863,4	MCF-7	breast:
14	chr1:228186659..228187602-chr1:228289825..228290605,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081692	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000143740	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000269934	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1048503	0.86[EUR][1000 genomes]
rs11582265	0.89[EUR][1000 genomes]
rs11582704	0.89[EUR][1000 genomes]
rs1188975	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1188977	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1620734	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2070960	0.86[EUR][1000 genomes]
rs3738680	0.86[EUR][1000 genomes]
rs3738681	0.86[EUR][1000 genomes]
rs3768329	0.89[EUR][1000 genomes]
rs3768330	0.89[EUR][1000 genomes]
rs3820624	0.84[EUR][1000 genomes]
rs708126	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822727	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs860301	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
10	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
12	esv3425625	chr1:228289354-228292202	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228276800-228290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:228277200-228290000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:228287800-228290000	Weak transcription	Fetal Kidney	kidney
4	chr1:228288000-228290200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:228288200-228290000	Weak transcription	Left Ventricle	heart
6	chr1:228288600-228290400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:228288800-228290200	Enhancers	Fetal Heart	heart
8	chr1:228289000-228290000	Weak transcription	Fetal Lung	lung
9	chr1:228289000-228290000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:228289000-228290000	Weak transcription	HSMMtube	muscle
11	chr1:228289000-228290200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:228289000-228290400	Flanking Active TSS	Colonic Mucosa	Colon
13	chr1:228289200-228290000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:228289200-228290000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr1:228289200-228290000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:228289200-228290000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:228289200-228290000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:228289200-228290000	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr1:228289200-228290000	Flanking Active TSS	HMEC	breast
20	chr1:228289200-228291400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:228289200-228291400	Active TSS	Hela-S3	cervix
22	chr1:228289200-228291800	Active TSS	HSMM	muscle
23	chr1:228289200-228292000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr1:228289400-228290000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:228289400-228290000	Weak transcription	Ovary	ovary
26	chr1:228289400-228290000	Enhancers	Stomach Mucosa	stomach
27	chr1:228289400-228290200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr1:228289400-228290200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr1:228289400-228290200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:228289400-228290200	Enhancers	Fetal Brain Male	brain
31	chr1:228289400-228290400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr1:228289400-228290400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr1:228289400-228290400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr1:228289400-228290400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:228289400-228290400	Flanking Active TSS	Dnd41	blood
36	chr1:228289400-228290600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:228289400-228290600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:228289400-228291400	Active TSS	K562	blood
39	chr1:228289400-228291400	Active TSS	Osteobl	bone
40	chr1:228289400-228291600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:228289400-228291600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:228289400-228291600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:228289400-228291600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:228289400-228292000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:228289400-228292000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:228289400-228292000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:228289400-228292000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:228289600-228290000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:228289600-228290000	Enhancers	Primary T cells from cord blood	blood
50	chr1:228289600-228290000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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