Variant report

Variant	rs203434
Chromosome Location	chr4:16234265-16234266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16230488..16232179-chr4:16234227..16236390,2	MCF-7	breast:
2	chr4:16233218..16235689-chr4:16242386..16245204,2	MCF-7	breast:
3	chr4:16051882..16054680-chr4:16233913..16235649,2	MCF-7	breast:
4	chr4:16227416..16229454-chr4:16230827..16235422,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10006159	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.95[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10019399	0.90[YRI][hapmap]
rs1025897	0.93[ASW][hapmap];0.91[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];0.94[MKK][hapmap];0.84[TSI][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1046234	0.92[YRI][hapmap]
rs10939657	0.81[ASN][1000 genomes]
rs11730977	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13133263	0.91[CEU][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13634	0.82[ASW][hapmap];0.82[CEU][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs1662654	0.90[YRI][hapmap]
rs16893162	0.86[LWK][hapmap];0.95[YRI][hapmap]
rs1712492	0.82[ASW][hapmap];0.82[CEU][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.86[LWK][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs178450	0.90[YRI][hapmap]
rs203435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs317853	0.80[AFR][1000 genomes]
rs317854	0.90[YRI][hapmap]
rs317869	0.90[YRI][hapmap]
rs317870	0.90[YRI][hapmap]
rs317872	0.90[YRI][hapmap]
rs317873	0.82[ASW][hapmap];0.82[CEU][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs317875	0.90[YRI][hapmap]
rs317876	0.90[YRI][hapmap]
rs317877	0.89[YRI][hapmap]
rs317878	0.85[YRI][hapmap]
rs36012247	0.86[AFR][1000 genomes]
rs6812660	0.94[ASW][hapmap];0.91[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7666361	0.86[AFR][1000 genomes]
rs961449	0.91[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.84[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv878720	chr4:16222046-16242215	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16229400-16241000	Weak transcription	Aorta	Aorta
2	chr4:16229600-16235400	Weak transcription	Left Ventricle	heart
3	chr4:16229600-16237600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:16229600-16254000	Weak transcription	Ovary	ovary
5	chr4:16229600-16254800	Weak transcription	Psoas Muscle	Psoas
6	chr4:16229800-16241400	Weak transcription	Primary T cells from cord blood	blood
7	chr4:16229800-16259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:16230000-16237000	Weak transcription	Fetal Brain Female	brain
9	chr4:16230000-16238000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:16230000-16244200	Weak transcription	Pancreas	Pancrea
11	chr4:16230000-16244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:16230000-16244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:16230600-16244200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:16231600-16235000	Enhancers	Primary B cells from peripheral blood	blood
15	chr4:16232200-16244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:16232600-16238200	Enhancers	Fetal Brain Male	brain
17	chr4:16232800-16235400	Weak transcription	Right Ventricle	heart
18	chr4:16233000-16234400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:16233000-16234400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:16233000-16234400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr4:16233000-16234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:16233000-16234600	Enhancers	Adipose Nuclei	Adipose
23	chr4:16233400-16234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:16233400-16234400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:16233600-16234400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:16233800-16234400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:16233800-16234400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:16233800-16237800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:16234000-16234400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:16234000-16234400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:16234000-16235000	Weak transcription	Fetal Kidney	kidney
32	chr4:16234000-16235800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:16234000-16237600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:16234000-16237800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:16234000-16238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:16234000-16239800	Weak transcription	Stomach Mucosa	stomach
37	chr4:16234000-16252000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:16234000-16252400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:16234000-16255000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:16234200-16234400	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr4:16234200-16234400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr4:16234200-16234400	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr4:16234200-16234400	Enhancers	HUVEC	blood vessel
44	chr4:16234200-16234600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr4:16234200-16234600	Enhancers	Brain Germinal Matrix	brain
46	chr4:16234200-16234600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr4:16234200-16234800	Enhancers	Primary hematopoietic stem cells	blood
48	chr4:16234200-16235000	Enhancers	Primary B cells from cord blood	blood
49	chr4:16234200-16235400	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:16234200-16235400	Enhancers	Pancreatic Islets	Pancreatic Islet

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