Variant report

Variant	rs71607434
Chromosome Location	chr4:88354139-88354140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88343202..88345892-chr4:88352761..88354836,2	MCF-7	breast:
2	chr4:88310172..88313314-chr4:88351686..88355047,4	K562	blood:

Variant related genes	Relation type
ENSG00000198189	Chromatin interaction
ENSG00000170502	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11097154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934698	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12644152	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13134730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13134914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34208894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34239468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35679067	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35856555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6531989	0.92[AFR][1000 genomes]
rs6531990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6837468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71607425	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71607431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71607432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71607435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689678	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][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	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88344400-88398600	Weak transcription	Gastric	stomach
2	chr4:88344600-88356200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:88344600-88356200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:88345200-88356200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:88345200-88356200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr4:88345200-88356800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:88345200-88362800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:88345200-88363000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:88345200-88400000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:88345200-88416400	Weak transcription	Colonic Mucosa	Colon
11	chr4:88345400-88356000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:88345400-88356000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:88345400-88356000	Weak transcription	Fetal Stomach	stomach
14	chr4:88345400-88356200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:88345400-88356200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:88345400-88356200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:88345400-88356200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr4:88345400-88356200	Weak transcription	Adipose Nuclei	Adipose
19	chr4:88345400-88356800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:88345400-88357200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:88345400-88357600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:88345400-88359400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:88345400-88359400	Weak transcription	Fetal Thymus	thymus
24	chr4:88345400-88361400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:88345400-88363400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:88345400-88372400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:88345400-88378800	Weak transcription	A549	lung
28	chr4:88345600-88354400	Weak transcription	Fetal Lung	lung
29	chr4:88345600-88357000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:88345800-88356800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:88345800-88356800	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:88345800-88357200	Weak transcription	Left Ventricle	heart
33	chr4:88345800-88357400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:88345800-88360800	Weak transcription	Brain Anterior Caudate	brain
35	chr4:88345800-88363400	Weak transcription	Right Ventricle	heart
36	chr4:88345800-88372200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:88346000-88356200	Weak transcription	Primary T cells from cord blood	blood
38	chr4:88346000-88359400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:88346000-88359400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:88346000-88363200	Weak transcription	Primary B cells from cord blood	blood
41	chr4:88346000-88364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:88346200-88359200	Weak transcription	NHDF-Ad	bronchial
43	chr4:88346200-88361000	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:88346200-88363200	Weak transcription	K562	blood
45	chr4:88346200-88370600	Weak transcription	Thymus	Thymus
46	chr4:88346200-88382600	Weak transcription	NHLF	lung
47	chr4:88346400-88356000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr4:88346400-88356200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:88346400-88356200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:88346400-88356200	Weak transcription	Stomach Smooth Muscle	stomach

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