Variant report

Variant	rs35631423
Chromosome Location	chr4:73958108-73958109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73933687..73936599-chr4:73957202..73960222,3	K562	blood:
2	chr4:73957266..73958989-chr4:73964334..73966830,2	MCF-7	breast:
3	chr4:73955980..73958967-chr4:74123435..74128733,4	K562	blood:
4	chr4:73957467..73959423-chr4:74123435..74126214,2	K562	blood:
5	chr4:73946540..73955069-chr4:73955536..73964230,11	K562	blood:

Variant related genes	Relation type
ENSG00000248641	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000163626	Chromatin interaction
ENSG00000250220	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13110675	1.00[CHD][hapmap]
rs13129129	1.00[AFR][1000 genomes]
rs13143112	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs2306059	1.00[CHD][hapmap]
rs34687745	1.00[AFR][1000 genomes]
rs34788598	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs35175301	1.00[AFR][1000 genomes]
rs35205976	1.00[AFR][1000 genomes]
rs35470795	1.00[AFR][1000 genomes]
rs35591466	1.00[CHD][hapmap]
rs35723050	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35889350	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4574377	1.00[CHD][hapmap]
rs71603617	1.00[AFR][1000 genomes]
rs71603682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7694865	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73936000-73969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:73936200-73980000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:73936400-73970000	Weak transcription	Stomach Mucosa	stomach
4	chr4:73938800-74005200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:73939000-73969600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:73939000-74005000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:73939400-73970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
9	chr4:73946800-73968000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:73949200-73988200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:73950600-74004200	Strong transcription	HSMM	muscle
12	chr4:73951000-73958200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:73952800-73992400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:73952800-74023000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:73953000-73969800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:73953600-73963400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:73954600-73968400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr4:73954600-73992200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:73954600-73995400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:73955000-73960600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:73955000-73963200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:73955200-73962000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:73955200-73972800	Strong transcription	Placenta	Placenta
24	chr4:73955200-73991400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:73955200-73991600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:73955400-73970400	Strong transcription	Dnd41	blood
27	chr4:73955600-73958800	Strong transcription	Fetal Intestine Large	intestine
28	chr4:73955600-73968200	Strong transcription	Osteobl	bone
29	chr4:73955800-73958200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:73955800-73958200	Strong transcription	Adipose Nuclei	Adipose
31	chr4:73955800-73958400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr4:73955800-73958800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:73955800-73968600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:73955800-73969000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr4:73955800-73969800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:73955800-74019000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr4:73955800-74022400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr4:73956000-73958400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:73956000-73960600	Strong transcription	Brain Germinal Matrix	brain
40	chr4:73956000-73960800	Strong transcription	NHDF-Ad	bronchial
41	chr4:73956000-73995600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:73956200-73958200	Strong transcription	GM12878-XiMat	blood
43	chr4:73956200-73958200	Strong transcription	K562	blood
44	chr4:73956200-73958600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:73956200-73958800	Strong transcription	NH-A	brain
46	chr4:73956200-73959000	Strong transcription	NHEK	skin
47	chr4:73956200-73960800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:73956200-73968200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:73956200-73968200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr4:73956200-73968200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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