Variant report

Variant	rs67412653
Chromosome Location	chr1:61716074-61716075
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61715305..61718261-chr1:61740987..61743600,2	K562	blood:
2	chr1:61635026..61638117-chr1:61715287..61717376,3	K562	blood:
3	chr1:61648753..61651711-chr1:61715272..61717636,2	K562	blood:

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

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

rs_ID	r²[population]
rs12565984	0.94[EUR][1000 genomes]
rs17121853	0.97[EUR][1000 genomes]
rs34351432	0.97[EUR][1000 genomes]
rs3737196	0.97[EUR][1000 genomes]
rs67613990	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7540527	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	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
2	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
3	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
4	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
5	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
6	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
7	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:60 , 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	chr1:61707400-61718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:61707400-61718800	Weak transcription	Gastric	stomach
4	chr1:61707600-61719000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:61707800-61718600	Weak transcription	Stomach Mucosa	stomach
6	chr1:61708000-61718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:61708000-61720400	Weak transcription	Colonic Mucosa	Colon
8	chr1:61709600-61719000	Weak transcription	Lung	lung
9	chr1:61710200-61716600	Weak transcription	Brain Angular Gyrus	brain
10	chr1:61710200-61718800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:61710200-61718800	Weak transcription	Small Intestine	intestine
12	chr1:61710200-61720400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:61710400-61718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:61710400-61718800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:61710400-61718800	Weak transcription	Fetal Stomach	stomach
16	chr1:61713200-61718800	Weak transcription	Fetal Brain Male	brain
17	chr1:61713400-61716200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:61713400-61717000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:61713400-61717000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:61713400-61718600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:61713400-61718600	Weak transcription	Pancreas	Pancrea
22	chr1:61713400-61718600	Weak transcription	Right Atrium	heart
23	chr1:61713400-61718600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:61713400-61718600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:61713400-61718800	Weak transcription	Left Ventricle	heart
26	chr1:61713800-61716400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:61714000-61718600	Weak transcription	Right Ventricle	heart
28	chr1:61714200-61718400	Weak transcription	K562	blood
29	chr1:61714200-61718600	Weak transcription	A549	lung
30	chr1:61714200-61718800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:61714200-61718800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:61714200-61718800	Weak transcription	Psoas Muscle	Psoas
33	chr1:61714400-61718400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:61714400-61718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:61714400-61718600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:61714400-61718600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:61714400-61720200	Weak transcription	Brain Germinal Matrix	brain
38	chr1:61714600-61718400	Weak transcription	Liver	Liver
39	chr1:61714600-61718600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:61714600-61718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:61714600-61718600	Weak transcription	Adipose Nuclei	Adipose
42	chr1:61714600-61718600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:61714600-61718800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:61715200-61716800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr1:61715200-61716800	Enhancers	Fetal Lung	lung
46	chr1:61715400-61716800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:61715400-61717000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:61715400-61717000	Enhancers	Brain Substantia Nigra	brain
49	chr1:61715600-61716600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:61715600-61717000	Enhancers	Brain Hippocampus Middle	brain

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