Variant report

Variant	rs59368868
Chromosome Location	chr1:85708217-85708218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85665494..85667810-chr1:85708035..85709602,2	MCF-7	breast:
2	chr1:85700522..85702496-chr1:85707627..85710446,2	MCF-7	breast:
3	chr1:85708208..85712302-chr1:85713167..85718221,7	K562	blood:
4	chr1:85694538..85697394-chr1:85706640..85709318,2	MCF-7	breast:
5	chr1:85706037..85709032-chr1:85723528..85726746,4	K562	blood:
6	chr1:85707621..85710304-chr1:85714410..85716081,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162642	Chromatin interaction
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55788030	0.82[AFR][1000 genomes]
rs60002721	0.82[AFR][1000 genomes]
rs74096891	0.84[AFR][1000 genomes]
rs74098811	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
2	chr1:85706000-85709000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:85706000-85716000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:85706400-85709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:85706400-85710000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:85706400-85710000	Weak transcription	NH-A	brain
7	chr1:85706600-85709200	Weak transcription	Fetal Heart	heart
8	chr1:85706600-85709200	Weak transcription	HSMM	muscle
9	chr1:85706600-85710400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:85706600-85716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:85706600-85716000	Weak transcription	Fetal Intestine Large	intestine
12	chr1:85706600-85716400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:85706800-85709000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:85706800-85709000	Weak transcription	Adipose Nuclei	Adipose
15	chr1:85706800-85710000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:85706800-85716000	Weak transcription	Primary T cells from cord blood	blood
17	chr1:85706800-85718400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:85707000-85709000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:85707000-85709000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:85707000-85709000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:85707000-85709000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:85707000-85709000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:85707000-85709000	Weak transcription	Osteobl	bone
24	chr1:85707000-85709200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:85707000-85715600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:85707000-85716400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:85707000-85719400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:85707000-85719600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:85707000-85721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:85707000-85722800	Weak transcription	HepG2	liver
31	chr1:85707000-85723000	Weak transcription	Stomach Mucosa	stomach
32	chr1:85707200-85709000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:85707200-85709000	Weak transcription	Fetal Lung	lung
34	chr1:85707200-85709000	Weak transcription	HSMMtube	muscle
35	chr1:85707200-85709600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:85707200-85709800	Weak transcription	Dnd41	blood
37	chr1:85707200-85710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:85707200-85710200	Weak transcription	HUVEC	blood vessel
39	chr1:85707200-85710400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:85707200-85715800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:85707200-85716000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:85707200-85716200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:85707400-85709200	Weak transcription	Fetal Stomach	stomach
44	chr1:85707800-85708400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:85707800-85708400	Enhancers	Placenta	Placenta
46	chr1:85707800-85708600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:85707800-85708800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:85707800-85724400	Weak transcription	Lung	lung

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