Variant report

Variant	rs7339969
Chromosome Location	chr1:186381770-186381771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186380559..186382125-chr1:186386387..186388417,2	K562	blood:
2	chr1:186373972..186376157-chr1:186379499..186382713,3	MCF-7	breast:
3	chr1:186375983..186377916-chr1:186380424..186382428,2	K562	blood:
4	chr1:186376260..186377916-chr1:186380372..186382428,2	K562	blood:
5	chr1:186381482..186384419-chr1:186389970..186392449,3	K562	blood:

Variant related genes	Relation type
ENSG00000157181	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16825335	0.83[AFR][1000 genomes]
rs57040195	0.81[AFR][1000 genomes]
rs6665157	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers 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 target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS 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 target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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	34 gene(s)	inside rSNPs	diseases
6	nsv872589	chr1:186354146-186390303	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7339969	C1orf27	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186390600	Weak transcription	Small Intestine	intestine
2	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
3	chr1:186346200-186388400	Weak transcription	Colonic Mucosa	Colon
4	chr1:186346400-186388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:186346400-186390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:186348000-186382000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:186348600-186390200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:186355600-186381800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:186361600-186388400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:186362400-186405600	Weak transcription	Brain Angular Gyrus	brain
11	chr1:186362800-186405600	Weak transcription	Right Ventricle	heart
12	chr1:186365400-186390200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:186365600-186388000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:186365600-186395200	Weak transcription	Psoas Muscle	Psoas
15	chr1:186365800-186388000	Weak transcription	Aorta	Aorta
16	chr1:186365800-186388000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:186365800-186388000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:186366200-186393800	Weak transcription	Lung	lung
19	chr1:186366400-186388000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:186367600-186390000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:186367800-186387800	Weak transcription	Fetal Brain Male	brain
22	chr1:186368200-186388000	Weak transcription	Brain Substantia Nigra	brain
23	chr1:186368600-186398200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:186368800-186387800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:186370400-186388200	Weak transcription	HSMMtube	muscle
26	chr1:186370600-186388000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:186371400-186383000	Strong transcription	HSMM	muscle
28	chr1:186371600-186383000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:186371600-186383200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:186372000-186389400	Weak transcription	Gastric	stomach
31	chr1:186372000-186391000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:186372000-186392000	Weak transcription	Esophagus	oesophagus
33	chr1:186372000-186398200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:186372000-186406000	Weak transcription	Pancreas	Pancrea
35	chr1:186373200-186383400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:186374200-186383000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:186374400-186381800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:186374400-186382000	Strong transcription	Fetal Thymus	thymus
39	chr1:186374400-186382800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:186374400-186383200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:186374400-186383200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:186374400-186383200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:186374600-186383000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:186374800-186383200	Strong transcription	Liver	Liver
45	chr1:186374800-186383400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:186374800-186390800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:186375000-186381800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:186375000-186382000	Strong transcription	Osteobl	bone
49	chr1:186375000-186383400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:186375400-186382800	Weak transcription	NHEK	skin

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