Variant report

Variant	rs58506841
Chromosome Location	chr2:179356597-179356598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr2:179356364-179356608	K562	blood:	n/a	n/a
2	MAX	chr2:179356360-179356772	K562	blood:	n/a	n/a
3	POLR2A	chr2:179356484-179356858	H1-neurons	neurons:	n/a	n/a
4	YY1	chr2:179356407-179356702	K562	blood:	n/a	n/a
5	TAL1	chr2:179356376-179356701	K562	blood:	n/a	n/a
6	EP300	chr2:179356421-179356633	K562	blood:	n/a	n/a
7	YY1	chr2:179356440-179356699	K562	blood:	n/a	n/a
8	FOS	chr2:179356433-179356628	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFF	chr2:179356491-179356637	K562	blood:	n/a	n/a
10	JUN	chr2:179356379-179356631	K562	blood:	n/a	n/a
11	MYC	chr2:179356573-179356613	K562	blood:	n/a	n/a
12	FOSL1	chr2:179356339-179356649	K562	blood:	n/a	chr2:179356483-179356494
13	JUND	chr2:179356404-179356623	HepG2	liver:	n/a	chr2:179356483-179356494
14	CBX3	chr2:179356313-179356817	K562	blood:	n/a	n/a
15	FOS	chr2:179356435-179356673	MCF10A-Er-Src	breast:	n/a	n/a
16	JUND	chr2:179356318-179356707	K562	blood:	n/a	chr2:179356483-179356494 chr2:179356337-179356346
17	MAX	chr2:179356376-179356697	K562	blood:	n/a	n/a
18	E2F6	chr2:179356494-179356633	K562	blood:	n/a	n/a
19	FOSL1	chr2:179356361-179356760	K562	blood:	n/a	chr2:179356483-179356494
20	RCOR1	chr2:179356517-179356618	K562	blood:	n/a	n/a
21	TEAD4	chr2:179356304-179356703	K562	blood:	n/a	n/a
22	POLR2A	chr2:179356351-179356621	K562	blood:	n/a	n/a
23	POLR2A	chr2:179356276-179356828	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr2:179356428-179356700	K562	blood:	n/a	n/a
25	ARID3A	chr2:179356423-179356717	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179355494..179357209-chr2:179364839..179367204,2	MCF-7	breast:
2	chr2:179354662..179357562-chr2:179362398..179365537,4	K562	blood:
3	chr2:179356121..179358654-chr2:179491189..179492895,2	K562	blood:
4	chr2:179355382..179358080-chr2:179358228..179361281,3	K562	blood:
5	chr2:179356489..179359180-chr2:179374513..179376046,2	K562	blood:

No data

Variant related genes	Relation type
PLEKHA3	TF binding region
ENSG00000116095	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16866391	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs16866396	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1978580	0.82[ASN][1000 genomes]
rs2059691	0.82[ASN][1000 genomes]
rs2249737	0.99[ASN][1000 genomes]
rs2303537	0.83[ASN][1000 genomes]
rs2303836	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179346400-179358600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:179346400-179387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:179346600-179358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:179347200-179358600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:179347200-179358600	Weak transcription	NHEK	skin
6	chr2:179347200-179358800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:179347400-179363000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:179347400-179369400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:179347600-179358400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:179347600-179358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:179347600-179371000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:179349600-179358600	Weak transcription	Esophagus	oesophagus
13	chr2:179349600-179361200	Strong transcription	Primary T cells from cord blood	blood
14	chr2:179349800-179357400	Weak transcription	HUVEC	blood vessel
15	chr2:179349800-179358600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:179349800-179358600	Weak transcription	Gastric	stomach
17	chr2:179349800-179360400	Weak transcription	Fetal Heart	heart
18	chr2:179349800-179364200	Weak transcription	Hela-S3	cervix
19	chr2:179350000-179358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:179350200-179358200	Weak transcription	Stomach Mucosa	stomach
21	chr2:179350200-179358400	Weak transcription	Right Atrium	heart
22	chr2:179350200-179358600	Weak transcription	Pancreas	Pancrea
23	chr2:179350200-179358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:179350200-179358800	Weak transcription	Small Intestine	intestine
25	chr2:179350400-179358800	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:179350400-179364200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:179350400-179371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:179350400-179371600	Strong transcription	Dnd41	blood
29	chr2:179350400-179372400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:179350400-179372400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:179350400-179384400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:179350600-179371200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:179350600-179372200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:179350800-179356800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:179350800-179356800	Strong transcription	Adipose Nuclei	Adipose
36	chr2:179350800-179370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:179350800-179371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:179350800-179372000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:179350800-179372000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:179351000-179368800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:179352000-179357200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:179352000-179358800	Weak transcription	Fetal Brain Male	brain
43	chr2:179352400-179360800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:179352600-179357400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:179352800-179372200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:179353000-179361800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:179353400-179369000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:179353600-179371600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:179353800-179357000	Strong transcription	Fetal Stomach	stomach
50	chr2:179353800-179368400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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