Variant report

Variant	rs74154606
Chromosome Location	chr1:247464995-247464996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247464530..247467054-chr1:247494594..247498451,4	K562	blood:
2	chr1:247457284..247461464-chr1:247462178..247466705,7	K562	blood:
3	chr1:247464828..247467490-chr1:247494042..247496164,2	MCF-7	breast:
4	chr1:247463122..247466119-chr1:247473298..247475329,2	K562	blood:
5	chr1:247461556..247465350-chr1:247467126..247471967,7	K562	blood:

Variant related genes	Relation type
ENSG00000162714	Chromatin interaction
ENSG00000202079	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12239403	1.00[EUR][1000 genomes]
rs56787665	1.00[EUR][1000 genomes]
rs58487481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6426228	1.00[EUR][1000 genomes]
rs73142632	1.00[AMR][1000 genomes]
rs74154604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
3	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
5	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247455000-247470400	Weak transcription	Fetal Brain Male	brain
2	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
3	chr1:247456600-247471400	Weak transcription	Fetal Heart	heart
4	chr1:247457000-247465000	Weak transcription	Hela-S3	cervix
5	chr1:247457800-247466000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:247458000-247466800	Weak transcription	HSMMtube	muscle
7	chr1:247459800-247485800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:247460800-247471600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:247460800-247474200	Strong transcription	Brain Germinal Matrix	brain
11	chr1:247460800-247474800	Strong transcription	Brain Cingulate Gyrus	brain
12	chr1:247460800-247476200	Weak transcription	HMEC	breast
13	chr1:247460800-247479800	Strong transcription	Fetal Brain Female	brain
14	chr1:247460800-247481000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr1:247461000-247468600	Strong transcription	Right Ventricle	heart
18	chr1:247461000-247469000	Strong transcription	Brain Anterior Caudate	brain
19	chr1:247461000-247475400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:247461000-247485400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:247461200-247465800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:247461200-247466000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:247461200-247473600	Weak transcription	HUVEC	blood vessel
24	chr1:247461200-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:247461400-247471600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:247461400-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:247461600-247475200	Strong transcription	Aorta	Aorta
30	chr1:247461600-247481000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:247461800-247474200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:247462000-247466200	Strong transcription	Ovary	ovary
33	chr1:247462000-247466200	Strong transcription	Thymus	Thymus
34	chr1:247462000-247466600	Strong transcription	Brain Hippocampus Middle	brain
35	chr1:247462000-247468600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:247462000-247468800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:247462000-247473800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:247462000-247473800	Strong transcription	Primary T cells from cord blood	blood
39	chr1:247462000-247474000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:247462000-247474000	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr1:247462200-247465000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:247462200-247473800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:247462200-247473800	Strong transcription	K562	blood
44	chr1:247462200-247480000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:247462400-247465000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:247462400-247466400	Strong transcription	Gastric	stomach
47	chr1:247462400-247467200	Strong transcription	Adipose Nuclei	Adipose
48	chr1:247462400-247467600	Strong transcription	Spleen	Spleen
49	chr1:247462400-247468800	Strong transcription	Liver	Liver
50	chr1:247462400-247469000	Strong transcription	Brain Angular Gyrus	brain

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