Variant report

Variant	rs57931767
Chromosome Location	chr3:52746234-52746235
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	chr3:52738807..52741797-chr3:52744029..52746270,3	K562	blood:

Variant related genes	Relation type
ENSG00000016864	Chromatin interaction
ENSG00000114902	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1344932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052322	0.85[AFR][1000 genomes]
rs17052355	0.85[AFR][1000 genomes]
rs17052424	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052427	1.00[AMR][1000 genomes]
rs1971811	0.85[AFR][1000 genomes]
rs2079928	1.00[AMR][1000 genomes]
rs41415947	0.85[AFR][1000 genomes]
rs56815357	0.85[AFR][1000 genomes]
rs57401769	0.85[AFR][1000 genomes]
rs57522359	1.00[AMR][1000 genomes]
rs57607481	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58057636	1.00[AMR][1000 genomes]
rs59182119	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59789322	0.88[AFR][1000 genomes]
rs60133283	1.00[AMR][1000 genomes]
rs60351358	0.91[AFR][1000 genomes]
rs60945641	1.00[AMR][1000 genomes]
rs61229218	0.83[AMR][1000 genomes]
rs6767229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6779626	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6796577	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6803865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6809065	0.97[AFR][1000 genomes]
rs72960298	1.00[AMR][1000 genomes]
rs7615320	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7616059	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7649820	0.91[AFR][1000 genomes];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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv508219	chr3:52741193-52803899	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52741000-52746400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:52741000-52748200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:52741000-52748200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:52741000-52748800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:52741000-52748800	Weak transcription	Lung	lung
6	chr3:52741200-52748200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:52741400-52746600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:52741400-52747000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:52741400-52765600	Weak transcription	Aorta	Aorta
10	chr3:52741400-52766600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:52741600-52746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:52741600-52746400	Weak transcription	Gastric	stomach
13	chr3:52741600-52746400	Weak transcription	Spleen	Spleen
14	chr3:52741600-52746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:52741600-52747000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:52741600-52747000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:52741600-52748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:52741600-52748200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:52741600-52748200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:52741600-52748400	Weak transcription	Colonic Mucosa	Colon
21	chr3:52741600-52748400	Weak transcription	Right Ventricle	heart
22	chr3:52741600-52748600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:52741600-52748600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:52741600-52752600	Weak transcription	Ovary	ovary
25	chr3:52741600-52752600	Weak transcription	A549	lung
26	chr3:52741600-52764000	Weak transcription	Small Intestine	intestine
27	chr3:52741600-52765600	Weak transcription	Esophagus	oesophagus
28	chr3:52741600-52804000	Weak transcription	Psoas Muscle	Psoas
29	chr3:52741800-52746800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr3:52741800-52747400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:52741800-52748400	Weak transcription	Fetal Heart	heart
32	chr3:52742000-52746400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:52742000-52748600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:52742000-52754200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:52742000-52765600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:52742000-52766400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:52742000-52766400	Weak transcription	NHLF	lung
38	chr3:52742000-52766600	Weak transcription	Hela-S3	cervix
39	chr3:52742000-52766600	Weak transcription	NHEK	skin
40	chr3:52742200-52748600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:52742200-52748800	Weak transcription	Stomach Mucosa	stomach
42	chr3:52742200-52767200	Weak transcription	Fetal Brain Male	brain
43	chr3:52742200-52768800	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:52742400-52748000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:52742400-52752600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:52742400-52754000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:52742400-52754000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:52742400-52754400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:52742400-52764200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:52742400-52771400	Weak transcription	K562	blood

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