Variant report

Variant	rs72957656
Chromosome Location	chr2:99525015-99525016
allele	C/T
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	KAP1	chr2:99524638-99526493	HEK293	kidney:	n/a	chr2:99525647-99525655
2	GATA3	chr2:99524874-99525224	SH-SY5Y	brain:	n/a	chr2:99525012-99525021
3	REST	chr2:99524908-99525352	MCF-7	breast:	n/a	n/a
4	GATA2	chr2:99524767-99525322	SH-SY5Y	brain:	n/a	chr2:99525012-99525021

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99523789..99526225-chr2:99550557..99552954,3	MCF-7	breast:
2	chr2:99484412..99487919-chr2:99523957..99528531,6	MCF-7	breast:

Variant related genes	Relation type
KIAA1211L	TF binding region
ENSG00000196872	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs56923186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58738020	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58821307	1.00[AMR][1000 genomes]
rs59365702	1.00[AMR][1000 genomes]
rs60523550	1.00[AMR][1000 genomes]
rs60725966	1.00[AMR][1000 genomes]
rs60745907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61503115	1.00[AMR][1000 genomes]
rs72956638	1.00[AMR][1000 genomes]
rs72956659	1.00[AMR][1000 genomes]
rs72956663	1.00[AMR][1000 genomes]
rs72957625	1.00[AMR][1000 genomes]
rs72957633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72957643	1.00[AMR][1000 genomes]
rs72957654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72957660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72957671	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs72957672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72958630	1.00[AMR][1000 genomes]
rs72958634	1.00[AMR][1000 genomes]
rs72958636	1.00[AMR][1000 genomes]
rs72958646	1.00[AMR][1000 genomes]
rs72958649	1.00[AMR][1000 genomes]
rs72958653	1.00[AMR][1000 genomes]
rs72958659	1.00[AMR][1000 genomes]
rs72958661	1.00[AMR][1000 genomes]
rs72958666	1.00[AMR][1000 genomes]
rs72960709	1.00[AMR][1000 genomes]
rs73965241	1.00[AMR][1000 genomes]
rs73965242	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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582518	chr2:99498774-99546355	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv874697	chr2:99520608-99558970	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99512000-99526000	Weak transcription	Right Atrium	heart
2	chr2:99517600-99526000	Weak transcription	Gastric	stomach
3	chr2:99520800-99528600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:99521000-99525200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:99521000-99526000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:99523800-99525600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:99523800-99526000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:99523800-99526600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:99523800-99526800	Enhancers	Esophagus	oesophagus
10	chr2:99523800-99530000	Enhancers	Fetal Muscle Leg	muscle
11	chr2:99524000-99525600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:99524000-99525800	Enhancers	Brain Angular Gyrus	brain
13	chr2:99524000-99526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:99524400-99525400	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:99524400-99525800	Weak transcription	Fetal Brain Female	brain
16	chr2:99524400-99525800	Enhancers	HUVEC	blood vessel
17	chr2:99524400-99526600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:99524400-99528400	Enhancers	HMEC	breast
19	chr2:99524400-99534400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:99524600-99526000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:99524600-99526600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:99524600-99526600	Enhancers	Stomach Mucosa	stomach
23	chr2:99524600-99526800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:99524600-99526800	Enhancers	NHEK	skin
25	chr2:99524600-99532400	Enhancers	Pancreas	Pancrea
26	chr2:99524800-99525200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:99524800-99525200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:99524800-99525200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:99524800-99525400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:99524800-99525400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:99524800-99525600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:99524800-99525600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:99524800-99525800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:99524800-99525800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:99524800-99525800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:99524800-99526400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:99524800-99526400	Enhancers	Placenta	Placenta
38	chr2:99524800-99526400	Enhancers	NHLF	lung
39	chr2:99524800-99526600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:99524800-99526600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:99524800-99526600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:99524800-99526600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:99524800-99526600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:99524800-99526600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:99524800-99526600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:99524800-99526600	Enhancers	Lung	lung
47	chr2:99524800-99526600	Enhancers	Psoas Muscle	Psoas
48	chr2:99524800-99526600	Enhancers	HSMMtube	muscle
49	chr2:99524800-99526800	Enhancers	Fetal Lung	lung
50	chr2:99524800-99527000	Enhancers	HSMM	muscle

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