Variant report

Variant	rs72992119
Chromosome Location	chr3:143072206-143072207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143067407..143070275-chr3:143070777..143072704,2	K562	blood:
2	chr3:143071861..143075412-chr3:143075859..143077751,4	K562	blood:
3	chr3:142841472..142843764-chr3:143071795..143073480,2	K562	blood:
4	chr3:143063232..143067878-chr3:143069249..143072270,4	K562	blood:

Variant related genes	Relation type
ENSG00000241679	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10513199	1.00[AMR][1000 genomes]
rs11915763	0.87[AFR][1000 genomes]
rs11925776	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853508	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853511	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853527	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853529	1.00[AMR][1000 genomes]
rs34043464	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57334336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57687610	1.00[AMR][1000 genomes]
rs58810476	1.00[AMR][1000 genomes]
rs59529984	0.81[AFR][1000 genomes]
rs72992127	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992177	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992193	1.00[AMR][1000 genomes]
rs72992195	1.00[AMR][1000 genomes]
rs72992201	1.00[AMR][1000 genomes]
rs7610768	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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv877564	chr3:143059952-143116883	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143063600-143076400	Weak transcription	Brain Anterior Caudate	brain
2	chr3:143068200-143078400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:143068200-143091800	Weak transcription	Lung	lung
4	chr3:143068800-143082000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:143069000-143080800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:143069000-143081600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:143069200-143080600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:143069600-143072400	Enhancers	Dnd41	blood
9	chr3:143069800-143081200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:143070000-143072600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:143070200-143088600	Weak transcription	Aorta	Aorta
12	chr3:143070400-143072400	Enhancers	Primary B cells from cord blood	blood
13	chr3:143070800-143072400	Enhancers	Primary B cells from peripheral blood	blood
14	chr3:143070800-143072400	Enhancers	Fetal Thymus	thymus
15	chr3:143071000-143072400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:143071200-143081600	Weak transcription	Fetal Lung	lung
17	chr3:143071600-143072400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:143071600-143072400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr3:143071600-143102400	Weak transcription	Esophagus	oesophagus
20	chr3:143071800-143073600	Enhancers	Stomach Mucosa	stomach
21	chr3:143072000-143072400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:143072000-143072400	Enhancers	Duodenum Mucosa	Duodenum
23	chr3:143072000-143072400	Enhancers	Placenta	Placenta
24	chr3:143072000-143076600	Weak transcription	HUVEC	blood vessel
25	chr3:143072000-143099400	Weak transcription	Ovary	ovary
26	chr3:143072200-143072400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:143072200-143072400	Enhancers	Brain Substantia Nigra	brain
28	chr3:143072200-143072400	Enhancers	Gastric	stomach
29	chr3:143072200-143073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:143072200-143077000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:143072200-143077000	Weak transcription	Spleen	Spleen
32	chr3:143072200-143081200	Weak transcription	Adipose Nuclei	Adipose

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