Variant report

Variant	rs4664578
Chromosome Location	chr2:153262740-153262741
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153262402..153264231-chr2:153268942..153273243,3	K562	blood:
2	chr2:153260728..153263432-chr2:153264025..153267575,5	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11892662	0.83[ASN][1000 genomes]
rs4664579	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664583	0.84[EUR][1000 genomes]
rs59348655	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
2	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:153253200-153262800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:153253200-153263200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:153253200-153263400	Enhancers	Brain Hippocampus Middle	brain
7	chr2:153253200-153263800	Weak transcription	Fetal Brain Female	brain
8	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:153254000-153263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:153257200-153263800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:153257600-153263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:153257600-153266800	Enhancers	HepG2	liver
13	chr2:153257800-153264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:153258000-153263200	Weak transcription	Osteobl	bone
16	chr2:153258600-153263600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:153259000-153263600	Enhancers	Adipose Nuclei	Adipose
18	chr2:153259200-153266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:153259200-153266600	Weak transcription	Right Ventricle	heart
20	chr2:153259600-153263800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:153259600-153263800	Weak transcription	Spleen	Spleen
22	chr2:153259800-153262800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:153259800-153263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:153260000-153262800	Weak transcription	Fetal Brain Male	brain
25	chr2:153260000-153263600	Weak transcription	Fetal Heart	heart
26	chr2:153260000-153263800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:153260200-153263600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:153260200-153264000	Weak transcription	Placenta	Placenta
29	chr2:153260200-153264600	Enhancers	Hela-S3	cervix
30	chr2:153260400-153262800	Weak transcription	Primary T cells from cord blood	blood
31	chr2:153260400-153262800	Weak transcription	Fetal Lung	lung
32	chr2:153260400-153263600	Weak transcription	Colonic Mucosa	Colon
33	chr2:153260400-153264000	Weak transcription	Fetal Thymus	thymus
34	chr2:153261000-153263400	Enhancers	NHEK	skin
35	chr2:153261000-153263600	Enhancers	Brain Anterior Caudate	brain
36	chr2:153261000-153264600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:153261200-153263600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:153261400-153263000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:153261400-153263600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:153261400-153263600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:153261400-153263800	Weak transcription	Lung	lung
42	chr2:153261400-153264200	Enhancers	HMEC	breast
43	chr2:153261400-153264600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:153261400-153264600	Enhancers	Stomach Mucosa	stomach
45	chr2:153261400-153264600	Flanking Active TSS	A549	lung
46	chr2:153261400-153265000	Enhancers	Brain Angular Gyrus	brain
47	chr2:153261400-153265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:153261600-153262800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:153261600-153263000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:153261600-153263400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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