Variant report

Variant	rs57020212
Chromosome Location	chr7:140208455-140208456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140207803..140209523-chr7:140395462..140398526,3	K562	blood:
2	chr7:140177890..140180491-chr7:140207898..140209465,2	K562	blood:

Variant related genes	Relation type
ENSG00000133606	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56344848	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7795188	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464734	chr7:140108096-140217670	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv608500	chr7:140108096-140217670	Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv437576	chr7:140182985-140217670	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv2761112	chr7:140191538-140234571	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv464735	chr7:140195463-140233585	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv608501	chr7:140195463-140233585	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1033685	chr7:140197079-140224303	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv1015856	chr7:140197079-140235677	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1032716	chr7:140198540-140214067	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1018535	chr7:140198540-140224303	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv1019815	chr7:140206590-140235677	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140205800-140225400	Weak transcription	Spleen	Spleen
2	chr7:140206000-140208800	Enhancers	Fetal Heart	heart
3	chr7:140206200-140208600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:140206200-140209000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:140206400-140212200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr7:140206800-140233200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:140207000-140208600	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:140207000-140209800	Weak transcription	Stomach Mucosa	stomach
9	chr7:140207000-140212000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:140207000-140212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:140207000-140212200	Weak transcription	A549	lung
12	chr7:140207000-140212400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:140207000-140241000	Weak transcription	Fetal Brain Male	brain
14	chr7:140207200-140208600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:140207200-140208600	Weak transcription	HepG2	liver
16	chr7:140207200-140208800	Enhancers	Stomach Smooth Muscle	stomach
17	chr7:140207200-140208800	Weak transcription	NH-A	brain
18	chr7:140207200-140210000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:140207200-140212200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:140207200-140212200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:140207200-140212200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:140207200-140212200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:140207200-140212200	Weak transcription	Pancreas	Pancrea
24	chr7:140207200-140212200	Weak transcription	Right Atrium	heart
25	chr7:140207200-140216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:140207200-140217200	Weak transcription	Fetal Intestine Small	intestine
27	chr7:140207200-140217400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:140207200-140217400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:140207200-140217400	Weak transcription	Fetal Lung	lung
30	chr7:140207200-140218000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:140207200-140218000	Weak transcription	NHLF	lung
32	chr7:140207200-140219200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:140207400-140211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:140207400-140211800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:140207400-140211800	Weak transcription	Placenta	Placenta
36	chr7:140207400-140212000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:140207400-140212200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:140207400-140212200	Weak transcription	Left Ventricle	heart
39	chr7:140207800-140208600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:140207800-140217200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:140207800-140218000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:140208000-140211800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:140208000-140211800	Weak transcription	Colonic Mucosa	Colon
44	chr7:140208000-140211800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:140208000-140212200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:140208000-140212200	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:140208000-140215000	Weak transcription	Fetal Stomach	stomach
48	chr7:140208000-140217200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:140208000-140218000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr7:140208200-140209200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links