Variant report

Variant	rs2452574
Chromosome Location	chr4:95452900-95452901
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95373929..95376091-chr4:95450759..95452941,2	K562	blood:
2	chr4:95452128..95455123-chr4:95466156..95467700,2	K562	blood:
3	chr4:95451315..95454000-chr4:95460159..95462503,3	MCF-7	breast:
4	chr4:95373541..95377061-chr4:95449267..95452941,4	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10034824	0.88[CHB][hapmap]
rs1032420	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12500426	0.82[CHB][hapmap]
rs12639887	0.82[CHB][hapmap]
rs12642449	0.82[CHB][hapmap]
rs12645971	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13110115	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13122786	0.83[CHB][hapmap]
rs13143502	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13146878	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17394213	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1972011	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2452008	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2452010	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2452563	0.92[CEU][hapmap]
rs2452569	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2452570	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452571	0.85[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2452572	0.96[ASN][1000 genomes]
rs2452575	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2452576	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2452577	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2452580	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2452582	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2452584	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2452585	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2452586	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2452601	0.82[CHB][hapmap]
rs2510768	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2510769	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2510772	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs2510774	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2510775	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2510776	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2510777	0.88[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2510779	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2510780	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2510781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510793	0.93[CEU][hapmap]
rs3792666	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3805263	0.82[CHB][hapmap]
rs3805266	0.82[CHB][hapmap]
rs3805285	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3843444	0.83[CHB][hapmap]
rs4634230	0.82[CHB][hapmap]
rs4699505	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699533	0.84[AMR][1000 genomes]
rs7662466	0.82[CHB][hapmap]

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:83 , 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	chr4:95444400-95453400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:95445000-95454600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:95445000-95454800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:95447400-95455000	Weak transcription	HepG2	liver
22	chr4:95447800-95457200	Weak transcription	NHLF	lung
23	chr4:95448600-95456200	Weak transcription	Brain Substantia Nigra	brain
24	chr4:95448600-95456600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:95449000-95453400	Weak transcription	Placenta	Placenta
26	chr4:95449000-95453400	Weak transcription	NHDF-Ad	bronchial
27	chr4:95449000-95453600	Weak transcription	Esophagus	oesophagus
28	chr4:95449000-95454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:95449000-95456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:95449200-95454600	Weak transcription	HSMM	muscle
31	chr4:95449200-95455800	Weak transcription	HSMMtube	muscle
32	chr4:95449200-95470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:95449400-95453400	Weak transcription	Stomach Mucosa	stomach
34	chr4:95449400-95455600	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:95449400-95456200	Weak transcription	Ovary	ovary
36	chr4:95449400-95457200	Enhancers	Fetal Heart	heart
37	chr4:95449600-95455000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:95449800-95460400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:95450200-95454600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:95450200-95454600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:95450200-95456400	Enhancers	Osteobl	bone
42	chr4:95450400-95453200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:95450400-95453400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:95450400-95454200	Weak transcription	Fetal Intestine Large	intestine
45	chr4:95450400-95454800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:95450400-95454800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:95450400-95454800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:95450400-95455800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:95450400-95455800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:95450400-95456000	Weak transcription	Aorta	Aorta

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