Variant report

Variant	rs73891248
Chromosome Location	chr3:196202308-196202309
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	chr3:196200904..196203106-chr3:196242169..196245085,2	K562	blood:

Variant related genes	Relation type
ENSG00000214097	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55949784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56867889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57804899	1.00[AMR][1000 genomes]
rs57849945	1.00[AMR][1000 genomes]
rs59386010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891240	1.00[AMR][1000 genomes]
rs73891254	1.00[AMR][1000 genomes]
rs73891256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891257	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891262	1.00[AMR][1000 genomes]
rs73891265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891267	1.00[AMR][1000 genomes]
rs73891269	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196182200-196213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:196191800-196216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:196193400-196209400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:196193600-196214600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:196194200-196215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:196194200-196217400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:196194400-196211200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:196194400-196216600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:196194600-196214600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:196194600-196214800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:196194600-196215800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:196194800-196215000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:196195000-196214800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:196195200-196202400	Strong transcription	Hela-S3	cervix
15	chr3:196195200-196215200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:196195400-196214800	Strong transcription	Liver	Liver
17	chr3:196195400-196215600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:196195600-196202400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:196195600-196214400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:196195600-196215000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:196195800-196214800	Strong transcription	Dnd41	blood
22	chr3:196196000-196205400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:196196600-196202400	Strong transcription	K562	blood
24	chr3:196196800-196207200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:196196800-196208000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:196196800-196214600	Strong transcription	Fetal Stomach	stomach
27	chr3:196196800-196214800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:196196800-196217000	Strong transcription	Fetal Intestine Small	intestine
29	chr3:196197000-196216800	Strong transcription	GM12878-XiMat	blood
30	chr3:196197000-196220000	Weak transcription	Stomach Mucosa	stomach
31	chr3:196197200-196214800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr3:196197200-196223800	Strong transcription	Fetal Thymus	thymus
33	chr3:196197400-196202400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:196197400-196202400	Strong transcription	Primary T cells from cord blood	blood
35	chr3:196197400-196202400	Strong transcription	Brain Substantia Nigra	brain
36	chr3:196197400-196202600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:196197400-196202600	Strong transcription	Adipose Nuclei	Adipose
38	chr3:196197400-196214600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:196197400-196214600	Strong transcription	Thymus	Thymus
40	chr3:196197600-196202400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:196197600-196202400	Strong transcription	Fetal Muscle Leg	muscle
42	chr3:196197600-196203800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:196197600-196214800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr3:196197600-196215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:196198000-196202400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:196198000-196202400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr3:196198000-196202400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:196198200-196202400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr3:196198200-196202400	Strong transcription	Fetal Lung	lung
50	chr3:196198200-196202400	Strong transcription	Rectal Mucosa Donor 31	rectum

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