Variant report

Variant	rs2137429
Chromosome Location	chr4:76591087-76591088
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76588364..76594216-chr4:76595418..76601309,9	MCF-7	breast:
2	chr4:76584903..76586465-chr4:76590671..76593356,2	K562	blood:
3	chr4:76578830..76581490-chr4:76590294..76592891,2	MCF-7	breast:
4	chr4:76590473..76593101-chr4:76597101..76599656,3	MCF-7	breast:
5	chr4:76590183..76592195-chr4:76649734..76652539,2	K562	blood:

Variant related genes	Relation type
ENSG00000138768	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10004891	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10020040	0.87[ASN][1000 genomes]
rs10856855	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10856857	0.84[AMR][1000 genomes]
rs11097050	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11097051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11729983	1.00[ASW][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731107	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11731569	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12233785	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12647909	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13103092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13124724	0.83[JPT][hapmap];0.80[AMR][1000 genomes]
rs13134512	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13135568	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13148199	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13152407	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17280938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs2055998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs28693963	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28709419	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35443067	0.82[ASW][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs3796479	0.89[JPT][hapmap];0.81[AMR][1000 genomes]
rs4859538	0.80[AMR][1000 genomes]
rs4859966	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs6818949	0.82[AMR][1000 genomes]
rs7665811	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9306994	0.82[ASW][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9306995	1.00[ASW][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9994998	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[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	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 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	chr4:76566200-76596600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:76566400-76593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:76567400-76596600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:76572000-76592200	Weak transcription	Psoas Muscle	Psoas
5	chr4:76572000-76594400	Weak transcription	Aorta	Aorta
6	chr4:76573800-76596200	Weak transcription	Colonic Mucosa	Colon
7	chr4:76574000-76596400	Weak transcription	Right Ventricle	heart
8	chr4:76578000-76592200	Weak transcription	Spleen	Spleen
9	chr4:76578000-76596400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:76578000-76597000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:76578000-76597000	Weak transcription	Esophagus	oesophagus
12	chr4:76579000-76594000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:76581000-76594000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:76583400-76595800	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:76583400-76595800	Weak transcription	Fetal Kidney	kidney
16	chr4:76583400-76596200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:76583400-76596200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:76583600-76594200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:76583600-76594200	Weak transcription	Adipose Nuclei	Adipose
20	chr4:76583600-76596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:76583800-76596200	Weak transcription	Brain Substantia Nigra	brain
22	chr4:76584400-76592200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:76584400-76592600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:76584400-76594000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:76584400-76596000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:76584400-76596200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:76584400-76596600	Weak transcription	HSMMtube	muscle
28	chr4:76584600-76596400	Weak transcription	Brain Angular Gyrus	brain
29	chr4:76584600-76597200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:76584800-76591200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:76585200-76596000	Weak transcription	NHLF	lung
32	chr4:76585600-76593800	Weak transcription	Hela-S3	cervix
33	chr4:76586400-76594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:76586600-76592200	Weak transcription	Left Ventricle	heart
35	chr4:76586600-76593000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:76586600-76597400	Weak transcription	Gastric	stomach
37	chr4:76586800-76591600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:76586800-76592800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:76586800-76596000	Weak transcription	Fetal Lung	lung
40	chr4:76586800-76596400	Weak transcription	HSMM	muscle
41	chr4:76586800-76597000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:76586800-76597200	Weak transcription	Lung	lung
43	chr4:76587000-76591200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:76587000-76591400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:76587000-76592200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:76587000-76593000	Weak transcription	Brain Germinal Matrix	brain
47	chr4:76587000-76595200	Weak transcription	Brain Anterior Caudate	brain
48	chr4:76587000-76597000	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:76587200-76592000	Weak transcription	HUVEC	blood vessel
50	chr4:76587200-76593800	Weak transcription	Liver	Liver

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