Variant report

Variant	rs57849945
Chromosome Location	chr3:196227401-196227402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195954091..195957267-chr3:196224695..196228323,3	K562	blood:
2	chr3:196138176..196140569-chr3:196226942..196228528,2	MCF-7	breast:
3	chr3:196225951..196229671-chr3:196232919..196236791,4	K562	blood:
4	chr3:196215382..196218284-chr3:196226840..196230501,3	K562	blood:
5	chr3:196014060..196015783-chr3:196226858..196228542,2	K562	blood:

Variant related genes	Relation type
ENSG00000163959	Chromatin interaction
ENSG00000161217	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	1.00[AMR][1000 genomes]
rs56867889	1.00[AMR][1000 genomes]
rs57804899	1.00[AMR][1000 genomes]
rs59386010	1.00[AMR][1000 genomes]
rs73891240	1.00[AMR][1000 genomes]
rs73891248	1.00[AMR][1000 genomes]
rs73891254	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891256	1.00[AMR][1000 genomes]
rs73891257	1.00[AMR][1000 genomes]
rs73891262	1.00[AMR][1000 genomes]
rs73891265	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	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	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
10	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196214400-196228200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:196225000-196227600	Enhancers	Small Intestine	intestine
3	chr3:196225800-196231600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:196226200-196227600	Flanking Active TSS	HUVEC	blood vessel
5	chr3:196226400-196231000	Active TSS	GM12878-XiMat	blood
6	chr3:196226400-196231200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:196226600-196227600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:196226600-196227600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:196226800-196227600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr3:196226800-196227600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr3:196226800-196227600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr3:196226800-196227600	Flanking Active TSS	Liver	Liver
13	chr3:196226800-196227600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr3:196226800-196227600	Flanking Active TSS	Fetal Heart	heart
15	chr3:196226800-196227600	Flanking Active TSS	Thymus	Thymus
16	chr3:196226800-196228200	Enhancers	Pancreas	Pancrea
17	chr3:196226800-196228800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:196226800-196231200	Active TSS	Colonic Mucosa	Colon
19	chr3:196227000-196227600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:196227000-196227600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr3:196227000-196227600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:196227000-196227600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr3:196227000-196227600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr3:196227000-196227600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr3:196227000-196227600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr3:196227000-196227600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr3:196227000-196228000	Active TSS	Brain Hippocampus Middle	brain
28	chr3:196227000-196228400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr3:196227000-196229800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:196227000-196230800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:196227000-196231000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr3:196227000-196231000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:196227000-196231000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:196227000-196231000	Active TSS	Esophagus	oesophagus
35	chr3:196227000-196231200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr3:196227000-196231200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr3:196227000-196231200	Active TSS	Fetal Kidney	kidney
38	chr3:196227000-196231200	Active TSS	Rectal Smooth Muscle	rectum
39	chr3:196227200-196227600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr3:196227200-196227600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr3:196227200-196227600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr3:196227200-196227600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:196227200-196227600	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr3:196227200-196227600	Flanking Active TSS	Placenta	Placenta
45	chr3:196227200-196227600	Flanking Active TSS	Left Ventricle	heart
46	chr3:196227200-196227600	Flanking Active TSS	Right Atrium	heart
47	chr3:196227200-196228200	Active TSS	Stomach Smooth Muscle	stomach
48	chr3:196227200-196229200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr3:196227200-196230600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr3:196227200-196230800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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