Variant report

Variant	rs4074156
Chromosome Location	chr1:85719610-85719611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85689720..85692131-chr1:85719135..85721500,2	MCF-7	breast:
2	chr1:85719208..85720830-chr1:85723988..85725529,2	MCF-7	breast:
3	chr1:85665862..85668406-chr1:85717337..85721065,4	MCF-7	breast:
4	chr1:85717103..85719849-chr1:86048181..86049791,2	K562	blood:
5	chr1:85719208..85720970-chr1:85755325..85757545,2	K562	blood:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction
ENSG00000162642	Chromatin interaction

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

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

rs_ID	r²[population]
rs1060843	0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11161564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11161581	0.93[CHB][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs11161583	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11161587	0.87[YRI][hapmap]
rs12065528	0.93[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12066982	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12068389	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12068788	0.93[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12084232	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12086970	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12087340	0.93[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12562182	0.89[AMR][1000 genomes]
rs12563515	0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.94[ASN][1000 genomes]
rs12726649	0.93[CHB][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.94[ASN][1000 genomes]
rs12743302	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12744565	0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs12746169	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17124345	1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34151221	0.83[EUR][1000 genomes]
rs35204975	0.86[EUR][1000 genomes]
rs35486093	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35783363	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35798604	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36116171	0.94[ASN][1000 genomes]
rs4258258	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6693229	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9887811	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9887812	0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9887879	0.89[AMR][1000 genomes];0.90[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 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	chr1:85707000-85721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:85707000-85722800	Weak transcription	HepG2	liver
3	chr1:85707000-85723000	Weak transcription	Stomach Mucosa	stomach
4	chr1:85707800-85724400	Weak transcription	Lung	lung
5	chr1:85709800-85724200	Weak transcription	Colonic Mucosa	Colon
6	chr1:85710400-85721400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:85710400-85724000	Weak transcription	Ovary	ovary
8	chr1:85710400-85724000	Weak transcription	Right Ventricle	heart
9	chr1:85710600-85719800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:85710600-85722600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:85710600-85723800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:85710800-85724000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:85710800-85724200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:85710800-85724400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:85710800-85724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:85711400-85719800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:85711600-85723800	Weak transcription	HSMMtube	muscle
18	chr1:85711800-85719800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:85712000-85723000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:85712000-85723000	Weak transcription	NHLF	lung
21	chr1:85712200-85722800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:85712200-85724000	Weak transcription	Fetal Stomach	stomach
23	chr1:85713000-85722800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:85713200-85724000	Weak transcription	Thymus	Thymus
25	chr1:85714400-85721400	Weak transcription	Brain Anterior Caudate	brain
26	chr1:85714600-85724200	Weak transcription	Gastric	stomach
27	chr1:85714800-85720400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:85714800-85723400	Weak transcription	Fetal Brain Male	brain
29	chr1:85715000-85721200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:85715000-85722600	Weak transcription	Brain Germinal Matrix	brain
31	chr1:85715000-85724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:85715200-85721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:85715200-85724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:85715800-85719800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:85715800-85723000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr1:85715800-85723000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:85716000-85720200	Strong transcription	Primary T cells from cord blood	blood
38	chr1:85716000-85720200	Strong transcription	Fetal Intestine Large	intestine
39	chr1:85716000-85723400	Weak transcription	Spleen	Spleen
40	chr1:85716200-85720200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:85716200-85720200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:85716200-85720200	Strong transcription	Liver	Liver
43	chr1:85716200-85723200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:85716200-85723600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:85716200-85723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:85716400-85720200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:85716400-85722600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:85716400-85723000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:85716600-85722600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:85716600-85723600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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