Variant report

Variant	rs2131879
Chromosome Location	chr3:194838916-194838917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194838435..194840732-chr3:194871464..194873939,2	K562	blood:
2	chr3:194832621..194836961-chr3:194837216..194841177,6	K562	blood:
3	chr3:194838089..194840730-chr3:194851941..194853573,2	K562	blood:
4	chr3:194837632..194840596-chr3:194875671..194877236,2	K562	blood:
5	chr3:194836997..194839918-chr3:194880679..194883112,2	K562	blood:
6	chr3:194838831..194840351-chr3:194842049..194843722,2	K562	blood:
7	chr3:194827712..194831083-chr3:194838703..194842904,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11721261	0.81[CHB][hapmap]
rs1552893	0.81[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs2172695	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2410845	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs28573813	0.88[ASN][1000 genomes]
rs28756361	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4266129	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs4300953	0.91[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs4645095	0.88[ASN][1000 genomes]
rs4677808	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4677812	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs4989375	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58370605	0.91[ASN][1000 genomes]
rs6797160	0.81[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs7616877	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7650833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs903308	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs903310	0.85[JPT][hapmap]
rs950257	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs9848862	0.83[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	esv1813153	chr3:194754532-194851746	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878136	chr3:194779412-194845226	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
13	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
15	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
17	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194822000-194846600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:194827400-194853600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:194827400-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:194827600-194839200	Weak transcription	Psoas Muscle	Psoas
5	chr3:194827600-194840000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:194827600-194840200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:194827600-194840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:194827600-194841200	Weak transcription	Brain Anterior Caudate	brain
9	chr3:194827600-194841200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:194827800-194840000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:194827800-194840000	Weak transcription	Brain Angular Gyrus	brain
12	chr3:194828800-194840200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:194831600-194839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:194831600-194839400	Weak transcription	Fetal Kidney	kidney
15	chr3:194831600-194857400	Weak transcription	Pancreas	Pancrea
16	chr3:194831800-194839000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:194831800-194839200	Weak transcription	Gastric	stomach
18	chr3:194831800-194840000	Weak transcription	NHDF-Ad	bronchial
19	chr3:194832400-194840000	Weak transcription	NHLF	lung
20	chr3:194832400-194853600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:194832800-194856200	Weak transcription	Primary T cells from cord blood	blood
22	chr3:194833600-194840800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:194834400-194839800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:194834800-194845400	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:194834800-194850400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:194835600-194840600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:194835600-194841800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:194835800-194839600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:194835800-194839800	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:194836000-194839000	Enhancers	Fetal Muscle Leg	muscle
31	chr3:194836000-194840800	Enhancers	Fetal Intestine Small	intestine
32	chr3:194836000-194841600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:194836000-194846200	Enhancers	Placenta	Placenta
34	chr3:194836600-194839800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr3:194836600-194839800	Enhancers	Fetal Thymus	thymus
36	chr3:194836600-194842600	Enhancers	HUVEC	blood vessel
37	chr3:194836800-194840000	Weak transcription	HSMMtube	muscle
38	chr3:194837400-194840000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:194837600-194840000	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:194837600-194840200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:194837600-194844400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:194838000-194839200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:194838000-194840000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:194838000-194840200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:194838000-194841800	Enhancers	NH-A	brain
46	chr3:194838200-194840600	Enhancers	Fetal Intestine Large	intestine
47	chr3:194838200-194840600	Enhancers	HepG2	liver
48	chr3:194838200-194841400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:194838400-194839000	Enhancers	Fetal Lung	lung
50	chr3:194838400-194839000	Genic enhancers	Fetal Stomach	stomach

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