Variant report

Variant	rs7535338
Chromosome Location	chr1:211687542-211687543
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211496336..211497406-chr1:211687015..211687898,3	MCF-7	breast:
2	chr1:211687078..211689014-chr1:211816106..211819639,3	K562	blood:
3	chr1:210316536..210317443-chr1:211686960..211687594,2	K562	blood:
4	chr1:211556040..211557948-chr1:211686154..211688879,2	K562	blood:
5	chr1:211682048..211685729-chr1:211686598..211691532,5	K562	blood:
6	chr1:211431812..211433345-chr1:211687443..211689444,2	K562	blood:
7	chr1:210545651..210547730-chr1:211687233..211688990,2	K562	blood:
8	chr1:211643094..211644057-chr1:211687082..211687978,3	MCF-7	breast:
9	chr1:211643131..211644087-chr1:211687087..211687982,3	K562	blood:
10	chr1:211687040..211689418-chr1:211828191..211829226,19	K562	blood:
11	chr1:211687336..211689241-chr1:211725322..211726983,2	MCF-7	breast:
12	chr1:211679953..211682698-chr1:211686016..211688389,2	K562	blood:
13	chr1:211496635..211497393-chr1:211687095..211687634,2	K562	blood:
14	chr1:211686187..211688121-chr1:211747912..211750697,2	K562	blood:
15	chr1:211686791..211692090-chr1:211692436..211697358,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction
ENSG00000153363	Chromatin interaction
ENSG00000228792	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61706237	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6676379	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6704323	0.89[AMR][1000 genomes]
rs6704432	0.89[AMR][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1826724	chr1:211684336-211694508	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211659200-211687600	Weak transcription	Spleen	Spleen
2	chr1:211684600-211688800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:211684800-211688600	Enhancers	HMEC	breast
4	chr1:211685400-211687800	Weak transcription	Thymus	Thymus
5	chr1:211686000-211690800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:211686200-211687800	Weak transcription	HUVEC	blood vessel
7	chr1:211686400-211687800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:211686400-211688200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:211686600-211687600	Weak transcription	Gastric	stomach
10	chr1:211686600-211691000	Enhancers	Stomach Mucosa	stomach
11	chr1:211686800-211687600	Enhancers	A549	lung
12	chr1:211686800-211688400	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:211686800-211688400	Enhancers	Fetal Intestine Large	intestine
14	chr1:211686800-211689000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:211687000-211687600	Enhancers	Hela-S3	cervix
16	chr1:211687000-211687600	Enhancers	Osteobl	bone
17	chr1:211687000-211687800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:211687000-211687800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:211687000-211687800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:211687000-211688000	Enhancers	NHEK	skin
21	chr1:211687000-211688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:211687000-211688600	Enhancers	K562	blood
23	chr1:211687200-211687600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:211687200-211687600	Enhancers	GM12878-XiMat	blood
25	chr1:211687200-211687800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:211687200-211687800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:211687200-211687800	Enhancers	NHDF-Ad	bronchial
28	chr1:211687200-211688000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:211687200-211688000	Enhancers	Stomach Smooth Muscle	stomach
30	chr1:211687200-211688200	Enhancers	Colonic Mucosa	Colon
31	chr1:211687200-211688400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr1:211687200-211688400	Enhancers	Fetal Intestine Small	intestine
33	chr1:211687200-211688600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:211687200-211688600	Enhancers	Fetal Muscle Leg	muscle
35	chr1:211687200-211688600	Enhancers	Fetal Thymus	thymus
36	chr1:211687200-211688600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:211687200-211689000	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:211687200-211689000	Enhancers	NH-A	brain
39	chr1:211687400-211687600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:211687400-211687600	Active TSS	Brain Anterior Caudate	brain
41	chr1:211687400-211687600	Active TSS	Brain Cingulate Gyrus	brain
42	chr1:211687400-211687800	Enhancers	Primary T cells from cord blood	blood
43	chr1:211687400-211687800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:211687400-211687800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:211687400-211687800	Active TSS	HepG2	liver
46	chr1:211687400-211688400	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:211687400-211688400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:211687400-211688400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:211687400-211688600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:211687400-211688600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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