Variant report

Variant	rs73219638
Chromosome Location	chr3:196214997-196214998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196204324..196206909-chr3:196213007..196215218,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56233974	0.96[EUR][1000 genomes]
rs60280349	0.96[EUR][1000 genomes]
rs61457417	0.98[EUR][1000 genomes]
rs73213994	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73213995	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73213996	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73213997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73219637	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73219639	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73219640	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73219641	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73219645	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73219647	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73219648	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73219649	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73891247	0.96[EUR][1000 genomes]
rs9754933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv878186	chr3:196158773-196219794	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196191800-196216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:196194200-196215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:196194200-196217400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:196194400-196216600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:196194600-196215800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:196194800-196215000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:196195200-196215200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:196195400-196215600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:196195600-196215000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:196196800-196217000	Strong transcription	Fetal Intestine Small	intestine
11	chr3:196197000-196216800	Strong transcription	GM12878-XiMat	blood
12	chr3:196197000-196220000	Weak transcription	Stomach Mucosa	stomach
13	chr3:196197200-196223800	Strong transcription	Fetal Thymus	thymus
14	chr3:196197600-196215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:196198200-196215000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr3:196198200-196215000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:196198200-196215000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:196198400-196215000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:196199400-196227000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:196200400-196218200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:196203200-196215000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr3:196203400-196215000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr3:196206400-196215000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:196206600-196215000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:196206800-196215000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:196206800-196215000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:196206800-196215000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:196206800-196215000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:196207000-196215000	Strong transcription	Osteobl	bone
30	chr3:196207600-196215600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:196208000-196215000	Strong transcription	NHDF-Ad	bronchial
32	chr3:196210600-196217400	Weak transcription	Fetal Heart	heart
33	chr3:196210600-196219000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr3:196210800-196226000	Weak transcription	Psoas Muscle	Psoas
35	chr3:196211600-196215000	Strong transcription	Placenta	Placenta
36	chr3:196212000-196222000	Weak transcription	HSMM	muscle
37	chr3:196212200-196215000	Strong transcription	Primary T cells from cord blood	blood
38	chr3:196212800-196215000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr3:196213000-196226800	Weak transcription	Fetal Kidney	kidney
40	chr3:196213200-196222000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:196213400-196215000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:196213400-196225800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:196213800-196226600	Weak transcription	Brain Substantia Nigra	brain
44	chr3:196214200-196217200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:196214200-196223000	Weak transcription	Brain Germinal Matrix	brain
46	chr3:196214200-196225000	Weak transcription	Ovary	ovary
47	chr3:196214200-196225400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:196214200-196225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:196214200-196226000	Weak transcription	A549	lung
50	chr3:196214400-196217200	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links