Variant report

Variant	rs4434638
Chromosome Location	chr8:19689633-19689634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:19687788-19691303	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19684503..19690255-chr8:19692290..19694608,6	K562	blood:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10101725	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10103937	0.92[ASN][1000 genomes]
rs11777843	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4268139	0.85[ASN][1000 genomes]
rs6984144	0.91[ASN][1000 genomes]
rs6998248	0.80[ASN][1000 genomes]
rs7824064	0.88[ASN][1000 genomes]
rs7838750	0.86[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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19676000-19699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:19676000-19710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:19676600-19705800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:19676600-19707200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:19676600-19707800	Strong transcription	Osteobl	bone
6	chr8:19676800-19702400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:19676800-19707400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:19677000-19694800	Strong transcription	Fetal Muscle Leg	muscle
9	chr8:19677000-19700400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:19677000-19701200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:19677000-19703800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:19677000-19706200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:19677000-19706800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr8:19677000-19707000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr8:19677000-19710600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:19677200-19697400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:19677200-19697600	Strong transcription	Brain Anterior Caudate	brain
18	chr8:19677200-19700600	Strong transcription	Primary B cells from cord blood	blood
19	chr8:19677200-19700600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:19677200-19701000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:19677200-19703000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:19677200-19703800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:19677200-19704000	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:19677200-19704600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:19677200-19706800	Strong transcription	Fetal Thymus	thymus
26	chr8:19677200-19707000	Strong transcription	Adipose Nuclei	Adipose
27	chr8:19677200-19707800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:19677200-19710400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:19677200-19710400	Strong transcription	Placenta	Placenta
30	chr8:19677200-19710600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:19677400-19697000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:19677400-19702400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:19677400-19703000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr8:19677400-19707000	Strong transcription	Dnd41	blood
35	chr8:19677400-19707200	Strong transcription	Primary T cells from cord blood	blood
36	chr8:19677400-19708400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr8:19677400-19710400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:19677400-19710800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:19677600-19697200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:19677600-19697400	Strong transcription	Left Ventricle	heart
41	chr8:19677600-19700200	Strong transcription	GM12878-XiMat	blood
42	chr8:19677600-19706600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:19677600-19707000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr8:19677600-19709400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:19677800-19697200	Strong transcription	Fetal Brain Female	brain
46	chr8:19677800-19700200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:19677800-19706800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:19678000-19694800	Strong transcription	Fetal Stomach	stomach
49	chr8:19678400-19697400	Strong transcription	Thymus	Thymus
50	chr8:19678600-19690000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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