Variant report

Variant	rs61695371
Chromosome Location	chr1:213028231-213028232
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
2	chr1:213025871..213028763-chr1:213030169..213033277,3	MCF-7	breast:
3	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:

Variant related genes	Relation type
ENSG00000198468	Chromatin interaction
ENSG00000162769	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17019780	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72743933	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72743935	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72743938	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72743992	0.81[AMR][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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61695371	FLVCR1-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213020400-213028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213022600-213030000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:213024200-213030000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:213024200-213030200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:213025200-213030200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:213025400-213029600	Weak transcription	Dnd41	blood
7	chr1:213025800-213029800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:213025800-213030000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:213026000-213030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:213026000-213030200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:213026200-213028400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:213026200-213028400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:213026200-213029600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:213026200-213030400	Weak transcription	Right Atrium	heart
15	chr1:213026200-213030800	Weak transcription	Thymus	Thymus
16	chr1:213026400-213028400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:213026400-213029800	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:213026400-213030200	Weak transcription	Primary T cells from cord blood	blood
19	chr1:213026400-213030400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:213026600-213030000	Weak transcription	Primary B cells from cord blood	blood
21	chr1:213026600-213030000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:213026600-213030000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:213026600-213030000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:213026600-213030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:213026600-213030200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:213026600-213030200	Weak transcription	Fetal Kidney	kidney
27	chr1:213026600-213030200	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:213026600-213030200	Weak transcription	Spleen	Spleen
29	chr1:213026600-213030200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:213026600-213030200	Weak transcription	NHEK	skin
31	chr1:213026800-213030000	Enhancers	HepG2	liver
32	chr1:213026800-213030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:213027000-213030000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:213027000-213030200	Weak transcription	Lung	lung
35	chr1:213027200-213028400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:213027200-213028400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:213027200-213028400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:213027200-213028400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:213027200-213029600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:213027200-213030000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:213027400-213029800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:213027400-213029800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:213027400-213030200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:213027400-213030200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:213027600-213029800	Weak transcription	Fetal Intestine Small	intestine
46	chr1:213027600-213030000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:213027600-213030200	Weak transcription	Fetal Stomach	stomach
48	chr1:213027600-213030600	Weak transcription	HSMMtube	muscle
49	chr1:213027800-213028800	Enhancers	A549	lung
50	chr1:213027800-213029800	Weak transcription	GM12878-XiMat	blood

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