Variant report

Variant	rs72737715
Chromosome Location	chr1:184531486-184531487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:184531400-184533136	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr1:184531410-184531730	T-47D	breast:	n/a	n/a
3	FOXA1	chr1:184531453-184531649	T-47D	breast:	n/a	n/a
4	GATA3	chr1:184531330-184531789	T-47D	breast:	n/a	n/a
5	FOXP2	chr1:184531344-184531771	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184531076..184532675-chr1:184595685..184597325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232036	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72735692	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72737728	1.00[AMR][1000 genomes]
rs72737767	1.00[AMR][1000 genomes]
rs72737777	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak 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	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking 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	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 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	chr1:184505800-184531600	Weak transcription	Fetal Stomach	stomach
2	chr1:184512200-184543600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:184514400-184543800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:184520800-184542000	Weak transcription	Ovary	ovary
5	chr1:184521000-184535800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:184521000-184547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:184525000-184546000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:184525200-184535200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:184525400-184535200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:184525600-184536000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:184525600-184544000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:184525600-184545600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:184525800-184535200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:184526400-184531600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:184526600-184535600	Weak transcription	Left Ventricle	heart
16	chr1:184528600-184535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:184528600-184536400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:184529200-184535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:184529800-184532600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:184530200-184531800	Enhancers	Right Ventricle	heart
21	chr1:184530200-184532200	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:184530200-184532600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:184530200-184532800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:184530200-184533000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:184530600-184532200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:184530600-184532400	Enhancers	Stomach Mucosa	stomach
27	chr1:184530600-184532400	Enhancers	HSMM	muscle
28	chr1:184530600-184535200	Weak transcription	Pancreas	Pancrea
29	chr1:184530800-184531600	Enhancers	GM12878-XiMat	blood
30	chr1:184530800-184531800	Enhancers	Fetal Muscle Leg	muscle
31	chr1:184530800-184532400	Enhancers	Rectal Smooth Muscle	rectum
32	chr1:184530800-184533200	Enhancers	Colon Smooth Muscle	Colon
33	chr1:184531000-184532000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:184531000-184532400	Enhancers	HSMMtube	muscle
35	chr1:184531000-184532600	Enhancers	Adipose Nuclei	Adipose
36	chr1:184531000-184536000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:184531000-184543800	Weak transcription	Esophagus	oesophagus
38	chr1:184531200-184531600	Weak transcription	Psoas Muscle	Psoas
39	chr1:184531200-184531600	Weak transcription	Right Atrium	heart
40	chr1:184531200-184531600	Enhancers	HMEC	breast
41	chr1:184531200-184531800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:184531200-184532000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:184531200-184532400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:184531200-184532400	Enhancers	NHDF-Ad	bronchial
45	chr1:184531200-184532400	Enhancers	NHLF	lung
46	chr1:184531200-184532600	Enhancers	Fetal Heart	heart
47	chr1:184531200-184532800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:184531200-184533000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:184531400-184531800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:184531400-184531800	Enhancers	Brain Substantia Nigra	brain

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