Variant report

Variant	rs4699700
Chromosome Location	chr4:99998335-99998336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99984757..99987673-chr4:99997054..99999527,2	K562	blood:
2	chr4:99994782..99998481-chr4:100008355..100010980,3	MCF-7	breast:
3	chr4:99996810..99999762-chr4:100007793..100010371,3	K562	blood:

Variant related genes	Relation type
ENSG00000197894	Chromatin interaction
ENSG00000246090	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1154400	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs1154401	0.92[YRI][hapmap]
rs11547772	0.82[AMR][1000 genomes]
rs12106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1230155	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12502237	0.80[AFR][1000 genomes]
rs12697	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1311620	0.92[YRI][hapmap]
rs28730602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28730632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658118	0.82[AMR][1000 genomes]
rs7658279	0.82[AMR][1000 genomes]
rs7669660	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7683704	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7684735	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4699700	ADH5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99954000-99999200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:99959800-100000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:99977600-100008400	Weak transcription	Stomach Mucosa	stomach
4	chr4:99977800-100009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:99978000-100007800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:99982400-100000400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:99982800-100000200	Weak transcription	Psoas Muscle	Psoas
8	chr4:99983000-100004600	Weak transcription	Pancreas	Pancrea
9	chr4:99983200-100000200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:99983200-100008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:99983600-100003400	Weak transcription	Right Ventricle	heart
12	chr4:99985600-100005200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:99985600-100006600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:99987200-100005000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:99987200-100005400	Strong transcription	Dnd41	blood
16	chr4:99987200-100006600	Strong transcription	HSMM	muscle
17	chr4:99987200-100008000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:99987400-100007600	Strong transcription	Fetal Thymus	thymus
19	chr4:99987600-100006000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:99987600-100006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:99987800-100001000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:99987800-100006800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:99987800-100007000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:99988000-100006800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:99988000-100007000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:99988200-100006400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:99988400-100007000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:99988800-100001800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:99989000-100006600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr4:99989000-100006800	Strong transcription	Primary T cells from cord blood	blood
31	chr4:99989400-100007400	Strong transcription	HMEC	breast
32	chr4:99989600-100007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:99989800-99999200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:99990000-100005000	Strong transcription	Placenta	Placenta
35	chr4:99990400-100005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:99990400-100006400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr4:99990600-99999800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:99990600-100007200	Strong transcription	Osteobl	bone
39	chr4:99990600-100007400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:99990800-100007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:99991000-100000600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr4:99991000-100006200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:99991200-100000200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr4:99991200-100006000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:99991200-100006800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:99991200-100007000	Strong transcription	Primary B cells from cord blood	blood
47	chr4:99991200-100007400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:99991200-100007400	Strong transcription	NHDF-Ad	bronchial
49	chr4:99991400-99998600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr4:99991400-100006600	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links