Variant report

Variant	rs2510780
Chromosome Location	chr4:95453817-95453818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95372094..95374862-chr4:95453134..95454857,2	K562	blood:
2	chr4:95453797..95455503-chr4:95458519..95460892,2	K562	blood:
3	chr4:95373570..95375959-chr4:95453474..95457865,4	K562	blood:
4	chr4:95377886..95380417-chr4:95453413..95456083,2	K562	blood:
5	chr4:95452128..95455123-chr4:95466156..95467700,2	K562	blood:
6	chr4:95451315..95454000-chr4:95460159..95462503,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1032420	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12645971	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13110115	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13143502	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13146878	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1972011	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452008	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452010	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2452569	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2452570	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2452571	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452572	0.89[ASN][1000 genomes]
rs2452574	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2452575	0.85[ASN][1000 genomes]
rs2452576	0.84[ASN][1000 genomes]
rs2452577	0.83[ASN][1000 genomes]
rs2452580	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2452582	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452584	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452585	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452586	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452589	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2510772	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2510774	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2510775	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2510776	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510777	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510779	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510781	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28740868	0.82[ASN][1000 genomes]
rs3792666	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3805285	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4699505	0.84[ASN][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
3	chr4:95437600-95456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:95438200-95454600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:95438400-95454800	Weak transcription	Hela-S3	cervix
6	chr4:95440400-95455000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:95440600-95454200	Weak transcription	Fetal Stomach	stomach
8	chr4:95440600-95454600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:95440600-95454800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:95440600-95456200	Weak transcription	Spleen	Spleen
11	chr4:95440600-95456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:95440600-95456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:95440800-95454200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:95441400-95455000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:95441600-95454600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:95442000-95469600	Weak transcription	Primary T cells from cord blood	blood
17	chr4:95442600-95455200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:95445000-95454600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:95445000-95454800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:95447400-95455000	Weak transcription	HepG2	liver
21	chr4:95447800-95457200	Weak transcription	NHLF	lung
22	chr4:95448600-95456200	Weak transcription	Brain Substantia Nigra	brain
23	chr4:95448600-95456600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:95449000-95454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:95449000-95456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:95449200-95454600	Weak transcription	HSMM	muscle
27	chr4:95449200-95455800	Weak transcription	HSMMtube	muscle
28	chr4:95449200-95470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:95449400-95455600	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:95449400-95456200	Weak transcription	Ovary	ovary
31	chr4:95449400-95457200	Enhancers	Fetal Heart	heart
32	chr4:95449600-95455000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:95449800-95460400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:95450200-95454600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:95450200-95454600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:95450200-95456400	Enhancers	Osteobl	bone
37	chr4:95450400-95454200	Weak transcription	Fetal Intestine Large	intestine
38	chr4:95450400-95454800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:95450400-95454800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:95450400-95454800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr4:95450400-95455800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:95450400-95455800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:95450400-95456000	Weak transcription	Aorta	Aorta
44	chr4:95450400-95456000	Weak transcription	Pancreas	Pancrea
45	chr4:95450400-95456200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:95450400-95456400	Weak transcription	Right Ventricle	heart
47	chr4:95450400-95465800	Weak transcription	Lung	lung
48	chr4:95450600-95454000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:95450600-95459600	Weak transcription	Brain Angular Gyrus	brain
50	chr4:95451200-95455400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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