Variant report

Variant	rs12663650
Chromosome Location	chr6:27366821-27366822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27359046..27360563-chr6:27366041..27368204,2	K562	blood:
2	chr6:27363554..27367371-chr6:27369337..27372451,5	K562	blood:
3	chr6:27276042..27278512-chr6:27366738..27369712,2	K562	blood:
4	chr6:27355567..27357656-chr6:27365756..27367664,2	K562	blood:
5	chr6:27363318..27368170-chr6:27368582..27372451,5	K562	blood:

Variant related genes	Relation type
ENSG00000124613	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1011665	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10946915	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10946935	0.86[YRI][hapmap]
rs12526495	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12529458	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12664996	0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13220817	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1883403	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2064093	1.00[YRI][hapmap]
rs2235232	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2393926	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2393962	0.83[YRI][hapmap]
rs2393964	1.00[YRI][hapmap]
rs4711152	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4713098	0.86[ASN][1000 genomes]
rs4713099	0.86[ASN][1000 genomes]
rs6913166	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6914864	0.85[ASN][1000 genomes]
rs6915266	0.86[YRI][hapmap]
rs6922815	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71559025	0.85[ASN][1000 genomes]
rs764284	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7761966	1.00[YRI][hapmap]
rs7772739	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9357038	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9379980	0.84[ASN][1000 genomes]
rs9393813	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1031803	chr6:27355881-27423655	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538166	chr6:27355881-27423655	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv5235	chr6:27358498-27404074	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12663650	ZNF391	cis	lung	GTEx
rs12663650	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27357400-27367000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:27357400-27367200	Weak transcription	Brain Substantia Nigra	brain
3	chr6:27357400-27367800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:27357400-27368000	Weak transcription	Fetal Kidney	kidney
5	chr6:27357600-27367000	Weak transcription	Fetal Brain Male	brain
6	chr6:27357600-27368000	Weak transcription	Brain Angular Gyrus	brain
7	chr6:27357600-27368600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:27357600-27368800	Weak transcription	Pancreas	Pancrea
9	chr6:27357800-27367000	Weak transcription	Spleen	Spleen
10	chr6:27357800-27367200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:27358000-27367000	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:27358000-27368200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:27359600-27371200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:27359600-27372200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:27360000-27371400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr6:27360600-27370800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:27362800-27367800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:27362800-27368400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:27362800-27368800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:27363000-27367000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:27363000-27372200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:27363200-27367200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:27364000-27370800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:27364800-27369800	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr6:27364800-27370600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr6:27365000-27367200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr6:27365000-27367600	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr6:27365000-27369400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr6:27365000-27370000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr6:27365000-27370400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr6:27365000-27370400	ZNF genes & repeats	Fetal Lung	lung
32	chr6:27365200-27367000	Weak transcription	Adipose Nuclei	Adipose
33	chr6:27365200-27368800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr6:27365400-27367000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:27365800-27368800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
36	chr6:27365800-27369200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr6:27365800-27369200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
38	chr6:27365800-27370800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr6:27366000-27367200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:27366000-27368600	Strong transcription	Fetal Intestine Large	intestine
41	chr6:27366000-27370200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr6:27366200-27367400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:27366200-27367800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:27366400-27367000	Weak transcription	Psoas Muscle	Psoas
45	chr6:27366600-27367800	Strong transcription	Left Ventricle	heart
46	chr6:27366600-27368800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:27366600-27370600	ZNF genes & repeats	Ovary	ovary
48	chr6:27366800-27367200	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr6:27366800-27367800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:27366800-27368800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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