Variant report

Variant	rs72744984
Chromosome Location	chr1:197887266-197887267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197744558..197746158-chr1:197886522..197888177,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213047	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72744986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197884400-197887400	Active TSS	Hela-S3	cervix
2	chr1:197884600-197887400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:197884600-197891000	Bivalent Enhancer	Fetal Thymus	thymus
4	chr1:197884800-197887400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:197884800-197887600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:197884800-197887800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
7	chr1:197884800-197887800	Bivalent/Poised TSS	NHDF-Ad	bronchial
8	chr1:197885000-197889000	Active TSS	Ovary	ovary
9	chr1:197885600-197888000	Bivalent Enhancer	Placenta	Placenta
10	chr1:197885800-197887600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
11	chr1:197885800-197888400	Bivalent Enhancer	Fetal Heart	heart
12	chr1:197886000-197887400	Bivalent/Poised TSS	A549	lung
13	chr1:197886000-197887800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:197886000-197887800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr1:197886000-197887800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:197886000-197887800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
17	chr1:197886000-197888600	Bivalent/Poised TSS	Osteobl	bone
18	chr1:197886200-197887600	Bivalent Enhancer	Fetal Brain Male	brain
19	chr1:197886200-197887800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
20	chr1:197886200-197887800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
21	chr1:197886200-197887800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:197886200-197887800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr1:197886200-197888600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
24	chr1:197886400-197887600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:197886400-197887600	Bivalent/Poised TSS	HSMM	muscle
26	chr1:197886400-197887800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr1:197886400-197887800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:197886400-197887800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr1:197886400-197887800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
30	chr1:197886400-197887800	Flanking Bivalent TSS/Enh	NHEK	skin
31	chr1:197886600-197887400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr1:197886600-197887400	Bivalent/Poised TSS	Aorta	Aorta
33	chr1:197886600-197887400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr1:197886600-197887400	Bivalent/Poised TSS	HSMMtube	muscle
35	chr1:197886600-197887600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:197886600-197887600	Flanking Bivalent TSS/Enh	Dnd41	blood
37	chr1:197886600-197887800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr1:197886600-197887800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr1:197886600-197887800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
40	chr1:197886600-197887800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
41	chr1:197886600-197887800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
42	chr1:197886600-197887800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
43	chr1:197886600-197887800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr1:197886600-197887800	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr1:197886600-197888400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr1:197886800-197887400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:197886800-197887400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
48	chr1:197886800-197887400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr1:197886800-197887600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:197886800-197887600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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