Variant report

Variant	rs6767234
Chromosome Location	chr3:194836755-194836756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194390713..194392530-chr3:194835145..194838026,3	K562	blood:
2	chr3:194835818..194838322-chr3:194977897..194980111,2	K562	blood:
3	chr3:194393010..194395182-chr3:194835929..194838395,2	MCF-7	breast:
4	chr3:194832621..194836961-chr3:194837216..194841177,6	K562	blood:
5	chr3:194832331..194837660-chr3:194839081..194841995,5	MCF-7	breast:
6	chr3:194836053..194838640-chr3:194899308..194901875,2	K562	blood:
7	chr3:194836469..194838114-chr3:194916214..194918865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000041802	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10433328	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs11721200	0.82[ASN][1000 genomes]
rs2410843	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2410846	0.82[ASN][1000 genomes]
rs4677656	0.81[ASN][1000 genomes]
rs4677662	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs4677807	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4677814	0.94[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs71317943	0.80[ASN][1000 genomes]
rs73206633	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73206646	0.93[ASN][1000 genomes]
rs73206648	0.80[ASN][1000 genomes]
rs73206650	0.80[ASN][1000 genomes]
rs7618901	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7628775	0.94[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs7630048	0.91[ASN][1000 genomes]
rs7632126	0.95[JPT][hapmap]
rs7637593	0.94[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs7653312	0.81[CHB][hapmap]
rs903309	0.94[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs903311	0.81[CHB][hapmap]

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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6767234	DLG1	cis	cerebellum	SCAN
rs6767234	PIGX	cis	cerebellum	SCAN
rs6767234	LOC348840	cis	cerebellum	SCAN

Chromatin state (count:79 , 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	chr3:194824000-194838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:194825800-194838400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:194826800-194838600	Weak transcription	Hela-S3	cervix
5	chr3:194827200-194838800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:194827200-194838800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:194827400-194838400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:194827400-194853600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:194827400-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:194827600-194838000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:194827600-194838000	Weak transcription	NH-A	brain
12	chr3:194827600-194838600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:194827600-194838600	Weak transcription	Stomach Mucosa	stomach
14	chr3:194827600-194839200	Weak transcription	Psoas Muscle	Psoas
15	chr3:194827600-194840000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:194827600-194840200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:194827600-194840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:194827600-194841200	Weak transcription	Brain Anterior Caudate	brain
19	chr3:194827600-194841200	Weak transcription	Brain Substantia Nigra	brain
20	chr3:194827800-194836800	Weak transcription	Fetal Heart	heart
21	chr3:194827800-194840000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:194827800-194840000	Weak transcription	Brain Angular Gyrus	brain
23	chr3:194828800-194840200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:194831400-194838000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:194831600-194838400	Weak transcription	Right Atrium	heart
26	chr3:194831600-194838400	Weak transcription	Dnd41	blood
27	chr3:194831600-194838800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:194831600-194838800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:194831600-194838800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:194831600-194839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:194831600-194839400	Weak transcription	Fetal Kidney	kidney
32	chr3:194831600-194857400	Weak transcription	Pancreas	Pancrea
33	chr3:194831800-194837000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:194831800-194838400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:194831800-194838400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:194831800-194839000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr3:194831800-194839200	Weak transcription	Gastric	stomach
38	chr3:194831800-194840000	Weak transcription	NHDF-Ad	bronchial
39	chr3:194832000-194838800	Enhancers	K562	blood
40	chr3:194832200-194837400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:194832200-194838400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:194832200-194838400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:194832400-194837200	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:194832400-194840000	Weak transcription	NHLF	lung
45	chr3:194832400-194853600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:194832800-194856200	Weak transcription	Primary T cells from cord blood	blood
47	chr3:194833400-194838400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:194833600-194840800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:194834400-194837200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:194834400-194839800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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