Variant report

Variant	rs61963221
Chromosome Location	chr13:111070394-111070395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12866564	0.89[ASN][1000 genomes]
rs12867664	0.89[ASN][1000 genomes]
rs12868152	0.89[ASN][1000 genomes]
rs12868452	0.89[ASN][1000 genomes]
rs35166119	0.89[ASN][1000 genomes]
rs6492269	1.00[ASN][1000 genomes]
rs9521753	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:111057800-111070400	Enhancers	Right Atrium	heart
3	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:111063800-111080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:111064200-111078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:111064800-111071800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:111065000-111070400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:111065000-111071000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:111065000-111071400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:111065000-111077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:111065000-111077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:111065200-111071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:111065200-111071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr13:111065200-111077000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:111065200-111077400	Weak transcription	Fetal Kidney	kidney
17	chr13:111065200-111082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:111066200-111071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:111066200-111073000	Weak transcription	A549	lung
20	chr13:111067400-111075200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:111068000-111070400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:111068000-111107000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:111068200-111070400	Genic enhancers	Osteobl	bone
24	chr13:111068200-111073000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:111068200-111073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:111068400-111071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:111068400-111088600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr13:111068600-111071200	Enhancers	Rectal Smooth Muscle	rectum
29	chr13:111068600-111072000	Weak transcription	Spleen	Spleen
30	chr13:111068600-111076000	Weak transcription	Esophagus	oesophagus
31	chr13:111068600-111078000	Weak transcription	Pancreas	Pancrea
32	chr13:111068600-111082800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr13:111068600-111086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:111068800-111070400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:111068800-111070400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:111068800-111070400	Enhancers	Fetal Muscle Leg	muscle
37	chr13:111068800-111071200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:111068800-111071400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:111068800-111071400	Weak transcription	Fetal Intestine Small	intestine
40	chr13:111068800-111071400	Weak transcription	NHEK	skin
41	chr13:111068800-111071800	Enhancers	Adipose Nuclei	Adipose
42	chr13:111068800-111071800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr13:111068800-111073200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:111068800-111073200	Weak transcription	Fetal Lung	lung
45	chr13:111068800-111080800	Weak transcription	Fetal Intestine Large	intestine
46	chr13:111069200-111070800	Enhancers	NHLF	lung
47	chr13:111069200-111071000	Enhancers	Fetal Stomach	stomach
48	chr13:111069200-111071000	Enhancers	HSMMtube	muscle
49	chr13:111069200-111072000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:111069200-111073200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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