Variant report

Variant	rs72711197
Chromosome Location	chr1:84569333-84569334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84536131..84538617-chr1:84567747..84570815,3	K562	blood:
2	chr1:84563814..84566575-chr1:84567797..84569864,2	K562	blood:
3	chr1:84539350..84542065-chr1:84568304..84570726,2	K562	blood:
4	chr1:84541330..84545077-chr1:84567686..84570781,4	K562	blood:

Variant related genes	Relation type
ENSG00000271576	Chromatin interaction
ENSG00000142875	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs41301152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72710861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72710864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72710875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72713007	1.00[AFR][1000 genomes]
rs72719389	1.00[AFR][1000 genomes]
rs72719401	1.00[AFR][1000 genomes]
rs72722887	1.00[AFR][1000 genomes]
rs72722890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724911	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84545000-84570000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:84568200-84569400	Enhancers	Fetal Intestine Small	intestine
3	chr1:84568400-84569400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:84568400-84569400	Enhancers	Brain Anterior Caudate	brain
5	chr1:84568400-84569400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:84568400-84569600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:84568400-84569600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:84568400-84569600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:84568400-84569600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:84568400-84569600	Enhancers	Dnd41	blood
11	chr1:84568400-84569600	Enhancers	HSMMtube	muscle
12	chr1:84568400-84569600	Enhancers	NHEK	skin
13	chr1:84568400-84569600	Enhancers	Osteobl	bone
14	chr1:84568400-84569800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:84568400-84569800	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:84568400-84569800	Enhancers	Hela-S3	cervix
17	chr1:84568400-84569800	Enhancers	NHDF-Ad	bronchial
18	chr1:84568400-84569800	Enhancers	NHLF	lung
19	chr1:84568400-84570000	Enhancers	Brain Angular Gyrus	brain
20	chr1:84568400-84570000	Enhancers	Fetal Heart	heart
21	chr1:84568400-84570400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:84568400-84570400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:84568400-84571000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:84568600-84569400	Enhancers	Fetal Lung	lung
25	chr1:84568600-84569400	Enhancers	Stomach Smooth Muscle	stomach
26	chr1:84568600-84569400	Enhancers	HMEC	breast
27	chr1:84568600-84569600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:84568600-84569600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:84568600-84569600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:84568600-84569600	Flanking Active TSS	K562	blood
31	chr1:84568600-84569800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:84568600-84569800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:84568600-84569800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:84568600-84569800	Enhancers	NH-A	brain
35	chr1:84568600-84570000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:84568600-84570400	Enhancers	Brain Substantia Nigra	brain
37	chr1:84568600-84571000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:84568800-84569400	Enhancers	Adipose Nuclei	Adipose
39	chr1:84568800-84569400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:84568800-84569400	Enhancers	Fetal Thymus	thymus
41	chr1:84568800-84569400	Enhancers	Ovary	ovary
42	chr1:84568800-84569400	Enhancers	Psoas Muscle	Psoas
43	chr1:84568800-84569400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:84568800-84569400	Flanking Active TSS	A549	lung
45	chr1:84568800-84569600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:84568800-84569600	Enhancers	HUVEC	blood vessel
47	chr1:84568800-84569800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:84568800-84570000	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:84568800-84570600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:84569000-84569400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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