Variant report

Variant	rs6624813
Chromosome Location	chrX:64941050-64941051
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:64887079..64888676-chrX:64940058..64942737,2	K562	blood:
2	chrX:64887014..64890188-chrX:64939207..64943512,5	K562	blood:
3	chrX:64936407..64939003-chrX:64940051..64941621,2	K562	blood:

Variant related genes	Relation type
ENSG00000147065	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12009586	1.00[YRI][hapmap]
rs1332720	1.00[YRI][hapmap]
rs13731	1.00[YRI][hapmap]
rs5918955	1.00[YRI][hapmap]
rs5918956	1.00[YRI][hapmap]
rs5964999	1.00[YRI][hapmap]
rs5965044	1.00[YRI][hapmap]
rs6525003	1.00[YRI][hapmap]
rs6525006	1.00[YRI][hapmap]
rs6525007	1.00[YRI][hapmap]
rs6653221	1.00[YRI][hapmap]
rs7050592	1.00[YRI][hapmap]
rs7051717	1.00[YRI][hapmap]
rs7053565	1.00[YRI][hapmap]

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	esv3429625	chrX:64787230-65458721	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv869900	chrX:64885384-64942167	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64924000-64942000	Weak transcription	Thymus	Thymus
2	chrX:64926400-64948600	Weak transcription	Fetal Lung	lung
3	chrX:64926600-64949400	Weak transcription	Esophagus	oesophagus
4	chrX:64926800-64949400	Weak transcription	Aorta	Aorta
5	chrX:64927000-64945000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chrX:64927000-64949200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chrX:64927200-64945000	Weak transcription	Osteobl	bone
8	chrX:64927200-64950400	Weak transcription	Gastric	stomach
9	chrX:64927600-64948200	Weak transcription	Fetal Muscle Leg	muscle
10	chrX:64927800-64945400	Weak transcription	Brain Cingulate Gyrus	brain
11	chrX:64927800-64945800	Weak transcription	Brain Substantia Nigra	brain
12	chrX:64927800-64945800	Weak transcription	HMEC	breast
13	chrX:64927800-64946800	Weak transcription	Brain Anterior Caudate	brain
14	chrX:64927800-64964200	Weak transcription	Fetal Heart	heart
15	chrX:64932000-64946600	Weak transcription	Psoas Muscle	Psoas
16	chrX:64932200-64947600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chrX:64932200-64947800	Weak transcription	Fetal Kidney	kidney
18	chrX:64932200-64949400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chrX:64932400-64948400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chrX:64933400-64950200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chrX:64934000-64941600	Weak transcription	Right Atrium	heart
22	chrX:64934200-64946000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chrX:64935800-64942400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chrX:64936000-64942400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chrX:64936200-64946600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chrX:64936400-64942000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chrX:64936400-64942400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chrX:64936400-64946400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chrX:64936400-64947000	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chrX:64936400-64951600	Weak transcription	Fetal Intestine Large	intestine
31	chrX:64936400-64963400	Strong transcription	Dnd41	blood
32	chrX:64936600-64941200	Strong transcription	HSMM	muscle
33	chrX:64936600-64941400	Strong transcription	Hela-S3	cervix
34	chrX:64936600-64941800	Strong transcription	K562	blood
35	chrX:64936600-64942200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chrX:64936600-64943600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chrX:64936800-64941200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chrX:64936800-64943400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chrX:64936800-64952600	Weak transcription	Rectal Smooth Muscle	rectum
40	chrX:64937000-64942400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chrX:64937200-64941200	Strong transcription	HSMMtube	muscle
42	chrX:64937400-64942600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chrX:64937400-64947800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chrX:64937600-64946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chrX:64937600-64947200	Weak transcription	Fetal Muscle Trunk	muscle
46	chrX:64937600-64947800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chrX:64937800-64943200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chrX:64937800-64943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chrX:64937800-64943200	Weak transcription	Stomach Smooth Muscle	stomach
50	chrX:64937800-64943600	Weak transcription	Left Ventricle	heart

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