Variant report

Variant	rs74090359
Chromosome Location	chr1:61713458-61713459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61711526..61714321-chr1:61724717..61727346,2	MCF-7	breast:
2	chr1:61710529..61714142-chr1:61715404..61719608,9	K562	blood:

Variant related genes	Relation type
ENSG00000237853	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56251671	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086705	0.81[AFR][1000 genomes]
rs74090349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090351	0.89[AFR][1000 genomes]
rs74090358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849929	chr1:61684084-61714142	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
3	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers 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 target site	6 gene(s)	inside rSNPs	diseases
5	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS 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 target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61703600-61713600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:61704600-61713600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:61705400-61715200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:61707400-61718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:61707400-61718800	Weak transcription	Gastric	stomach
7	chr1:61707600-61719000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:61707800-61718600	Weak transcription	Stomach Mucosa	stomach
9	chr1:61708000-61713600	Weak transcription	A549	lung
10	chr1:61708000-61718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:61708000-61720400	Weak transcription	Colonic Mucosa	Colon
12	chr1:61709600-61719000	Weak transcription	Lung	lung
13	chr1:61710200-61715600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:61710200-61715600	Weak transcription	Fetal Heart	heart
15	chr1:61710200-61716600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:61710200-61718800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:61710200-61718800	Weak transcription	Small Intestine	intestine
18	chr1:61710200-61720400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:61710400-61718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:61710400-61718800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:61710400-61718800	Weak transcription	Fetal Stomach	stomach
22	chr1:61710600-61713800	Weak transcription	Adipose Nuclei	Adipose
23	chr1:61710600-61713800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:61710600-61716000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:61710800-61714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:61711400-61713800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:61712200-61713600	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:61712600-61713800	Enhancers	HepG2	liver
29	chr1:61712800-61713800	Enhancers	Ovary	ovary
30	chr1:61712800-61714200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:61712800-61714600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:61713000-61713600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:61713000-61713600	Enhancers	Psoas Muscle	Psoas
34	chr1:61713000-61714000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:61713000-61714000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:61713000-61714000	Enhancers	Right Ventricle	heart
37	chr1:61713000-61714400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:61713000-61714800	Enhancers	Fetal Lung	lung
39	chr1:61713000-61715000	Enhancers	Brain Substantia Nigra	brain
40	chr1:61713200-61713600	Weak transcription	Brain Anterior Caudate	brain
41	chr1:61713200-61713800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:61713200-61714200	Enhancers	K562	blood
43	chr1:61713200-61714400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:61713200-61714400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:61713200-61714400	Enhancers	Brain Hippocampus Middle	brain
46	chr1:61713200-61714600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:61713200-61714600	Enhancers	Liver	Liver
48	chr1:61713200-61716000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:61713200-61718800	Weak transcription	Fetal Brain Male	brain
50	chr1:61713400-61713600	Enhancers	Brain Cingulate Gyrus	brain

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