Variant report

Variant	rs72931146
Chromosome Location	chr2:39662863-39662864
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	UBTF	chr2:39662309-39665492	K562	blood:	n/a	n/a
2	MXI1	chr2:39662210-39666175	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr2:39662716-39665699	IMR90	lung:	n/a	n/a
4	ZNF263	chr2:39662245-39665558	HEK293-T-REx	kidney:	n/a	chr2:39664436-39664445 chr2:39664470-39664479 chr2:39663909-39663918 chr2:39664443-39664464 chr2:39664471-39664492
5	MBD4	chr2:39662790-39663963	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:39661430..39663106-chr2:39773041..39775918,2	MCF-7	breast:
2	chr2:39603738..39609073-chr2:39660426..39665645,8	MCF-7	breast:
3	chr2:39662097..39664715-chr2:39993095..39995663,2	K562	blood:
4	chr2:39601552..39609752-chr2:39662569..39667062,10	MCF-7	breast:
5	chr2:39661305..39663930-chr2:39740460..39742003,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	TF binding region
ENSG00000231312	Chromatin interaction
ENSG00000138050	Chromatin interaction
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17023823	0.81[AFR][1000 genomes]
rs58423878	1.00[AMR][1000 genomes]
rs72929170	1.00[AMR][1000 genomes]
rs72929174	1.00[AMR][1000 genomes]
rs72929178	1.00[AMR][1000 genomes]
rs72929192	0.81[AFR][1000 genomes]
rs72931106	0.81[AFR][1000 genomes]
rs72931126	1.00[AMR][1000 genomes]
rs72931142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931162	0.95[AFR][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	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS 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	17 gene(s)	inside rSNPs	diseases
4	nsv2695	chr2:39643221-39688015	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39658600-39663000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr2:39659000-39663000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:39659200-39663400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:39660000-39663200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:39660000-39663400	Flanking Active TSS	K562	blood
6	chr2:39660200-39663200	Enhancers	Small Intestine	intestine
7	chr2:39661000-39663000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:39661000-39666000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:39661200-39663000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:39661200-39663000	Flanking Active TSS	Fetal Heart	heart
11	chr2:39661200-39665000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:39661400-39663200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:39661400-39663200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:39661400-39663400	Flanking Active TSS	Fetal Brain Female	brain
15	chr2:39661400-39664000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr2:39661400-39665000	Active TSS	Right Atrium	heart
17	chr2:39661600-39663200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr2:39661600-39663400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:39661600-39663400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:39661600-39663400	Flanking Active TSS	Hela-S3	cervix
21	chr2:39661600-39663600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr2:39661600-39663800	Flanking Active TSS	Dnd41	blood
23	chr2:39661800-39663000	Flanking Active TSS	NHEK	skin
24	chr2:39661800-39663200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:39661800-39663200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:39661800-39663600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr2:39661800-39664000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:39661800-39665200	Active TSS	HSMMtube	muscle
29	chr2:39661800-39667000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:39661800-39667000	Active TSS	Aorta	Aorta
31	chr2:39662000-39663600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:39662000-39665000	Active TSS	Stomach Smooth Muscle	stomach
33	chr2:39662000-39665200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:39662000-39665200	Active TSS	NHLF	lung
35	chr2:39662000-39665400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:39662000-39665400	Active TSS	HSMM	muscle
37	chr2:39662000-39665600	Active TSS	Right Ventricle	heart
38	chr2:39662000-39665800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:39662000-39666000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr2:39662000-39666200	Active TSS	Ovary	ovary
41	chr2:39662200-39663000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:39662200-39663000	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr2:39662200-39663000	Flanking Active TSS	Fetal Lung	lung
44	chr2:39662200-39663000	Flanking Active TSS	A549	lung
45	chr2:39662200-39663200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:39662200-39663200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:39662200-39663200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr2:39662200-39663400	Flanking Active TSS	HUVEC	blood vessel
49	chr2:39662200-39663800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:39662200-39663800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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