Variant report

Variant	rs7623657
Chromosome Location	chr3:194839132-194839133
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194838435..194840732-chr3:194871464..194873939,2	K562	blood:
2	chr3:194832331..194837660-chr3:194839081..194841995,5	MCF-7	breast:
3	chr3:194832621..194836961-chr3:194837216..194841177,6	K562	blood:
4	chr3:194838089..194840730-chr3:194851941..194853573,2	K562	blood:
5	chr3:194837632..194840596-chr3:194875671..194877236,2	K562	blood:
6	chr3:194836997..194839918-chr3:194880679..194883112,2	K562	blood:
7	chr3:194838831..194840351-chr3:194842049..194843722,2	K562	blood:
8	chr3:194827712..194831083-chr3:194838703..194842904,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1494327	0.96[ASN][1000 genomes]
rs28744613	0.96[ASN][1000 genomes]
rs4079351	0.93[ASN][1000 genomes]
rs4677657	0.95[ASN][1000 genomes]
rs4677658	0.95[ASN][1000 genomes]
rs4677659	0.95[ASN][1000 genomes]
rs4677660	0.95[ASN][1000 genomes]
rs4677804	0.95[ASN][1000 genomes]
rs4677809	0.96[ASN][1000 genomes]
rs55980698	0.95[ASN][1000 genomes]
rs55993159	0.95[ASN][1000 genomes]
rs56268394	0.95[ASN][1000 genomes]
rs6437456	0.96[ASN][1000 genomes]
rs6437457	0.96[ASN][1000 genomes]
rs67660032	0.94[ASN][1000 genomes]
rs869520	0.96[ASN][1000 genomes]
rs903301	0.94[ASN][1000 genomes]
rs903302	0.94[ASN][1000 genomes]
rs903307	0.96[ASN][1000 genomes]
rs9757797	0.87[ASN][1000 genomes]
rs9859891	0.87[ASN][1000 genomes]
rs9872141	0.85[ASN][1000 genomes]
rs9875441	0.95[ASN][1000 genomes]
rs9882947	0.95[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:95 , 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	chr3:194831600-194839400	Weak transcription	Fetal Kidney	kidney
14	chr3:194831600-194857400	Weak transcription	Pancreas	Pancrea
15	chr3:194831800-194839200	Weak transcription	Gastric	stomach
16	chr3:194831800-194840000	Weak transcription	NHDF-Ad	bronchial
17	chr3:194832400-194840000	Weak transcription	NHLF	lung
18	chr3:194832400-194853600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:194832800-194856200	Weak transcription	Primary T cells from cord blood	blood
20	chr3:194833600-194840800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:194834400-194839800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:194834800-194845400	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:194834800-194850400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:194835600-194840600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:194835600-194841800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:194835800-194839600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:194835800-194839800	Enhancers	Primary hematopoietic stem cells	blood
28	chr3:194836000-194840800	Enhancers	Fetal Intestine Small	intestine
29	chr3:194836000-194841600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:194836000-194846200	Enhancers	Placenta	Placenta
31	chr3:194836600-194839800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:194836600-194839800	Enhancers	Fetal Thymus	thymus
33	chr3:194836600-194842600	Enhancers	HUVEC	blood vessel
34	chr3:194836800-194840000	Weak transcription	HSMMtube	muscle
35	chr3:194837400-194840000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:194837600-194840000	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:194837600-194840200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:194837600-194844400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:194838000-194839200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:194838000-194840000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:194838000-194840200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:194838000-194841800	Enhancers	NH-A	brain
43	chr3:194838200-194840600	Enhancers	Fetal Intestine Large	intestine
44	chr3:194838200-194840600	Enhancers	HepG2	liver
45	chr3:194838200-194841400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr3:194838400-194839200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:194838400-194839200	Enhancers	Esophagus	oesophagus
48	chr3:194838400-194839200	Enhancers	Fetal Heart	heart
49	chr3:194838400-194839400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:194838400-194839400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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