Variant report

Variant	rs1506618
Chromosome Location	chr3:43328946-43328947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43328576..43330209-chr3:43363736..43365348,2	K562	blood:
2	chr3:43328082..43330424-chr3:43353703..43355564,2	K562	blood:
3	chr3:43327640..43330625-chr3:43731199..43733951,3	K562	blood:
4	chr3:43328259..43329793-chr3:43345734..43348023,2	K562	blood:
5	chr3:43328459..43331117-chr3:43356191..43358697,2	K562	blood:

Variant related genes	Relation type
ENSG00000241939	Chromatin interaction
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10084663	0.81[AFR][1000 genomes]
rs11129997	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11129998	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11130003	0.91[YRI][hapmap];1.00[AFR][1000 genomes]
rs1120779	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11713302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12495394	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12497714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12632805	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs1320157	1.00[AMR][1000 genomes]
rs1320159	1.00[AMR][1000 genomes]
rs1472807	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1996496	1.00[AMR][1000 genomes]
rs2036616	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2135510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2372353	1.00[AMR][1000 genomes]
rs2372357	1.00[AMR][1000 genomes]
rs2372358	1.00[AMR][1000 genomes]
rs2372359	1.00[AMR][1000 genomes]
rs2888311	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234427	1.00[AMR][1000 genomes]
rs4234466	1.00[AMR][1000 genomes]
rs4339089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4346523	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4405884	1.00[AMR][1000 genomes]
rs4420837	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4425230	1.00[AMR][1000 genomes]
rs4470482	1.00[AMR][1000 genomes]
rs4569634	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4618196	1.00[AMR][1000 genomes]
rs4642093	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682673	1.00[AMR][1000 genomes]
rs4682674	1.00[AMR][1000 genomes]
rs4682681	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682688	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682884	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682889	1.00[AMR][1000 genomes]
rs4683365	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs4683368	1.00[AMR][1000 genomes]
rs6441771	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6442145	1.00[AMR][1000 genomes]
rs6765835	1.00[AMR][1000 genomes]
rs6766825	1.00[AMR][1000 genomes]
rs6767741	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6775392	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6784075	0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6791682	1.00[AMR][1000 genomes]
rs6793755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7616072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7636644	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7647197	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7648023	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7651091	1.00[AMR][1000 genomes]
rs906156	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906157	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906158	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs937827	0.81[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9755005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs984345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9846341	1.00[AFR][1000 genomes]
rs9859465	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3420235	chr3:43326048-43330246	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv876732	chr3:43326887-43360879	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3527908	chr3:43327298-43329521	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3527909	chr3:43327298-43329521	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv590153	chr3:43327873-43329913	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv590154	chr3:43327873-43334020	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv590155	chr3:43327873-43334878	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv590157	chr3:43327924-43329913	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv590158	chr3:43327924-43334878	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv590159	chr3:43328010-43329913	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv590160	chr3:43328076-43334878	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43327200-43329000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:43327200-43329000	Active TSS	Fetal Brain Female	brain
3	chr3:43327200-43329200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr3:43327200-43329200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:43327400-43329000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr3:43327400-43329000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:43327400-43329200	Active TSS	Lung	lung
8	chr3:43327400-43329400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:43327400-43329800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:43327400-43330200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr3:43327400-43330600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:43327400-43332000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr3:43327600-43329000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr3:43327600-43329000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:43327600-43329000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr3:43327600-43329000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:43327600-43329000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:43327600-43329000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:43327600-43329000	Active TSS	Brain Anterior Caudate	brain
20	chr3:43327600-43329000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr3:43327600-43329000	Active TSS	Fetal Brain Male	brain
22	chr3:43327600-43329000	Active TSS	Fetal Stomach	stomach
23	chr3:43327600-43329000	Active TSS	A549	lung
24	chr3:43327600-43329000	Active TSS	Hela-S3	cervix
25	chr3:43327600-43329200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:43327600-43329200	Active TSS	Liver	Liver
27	chr3:43327600-43329200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr3:43327600-43329200	Active TSS	Gastric	stomach
29	chr3:43327600-43329200	Active TSS	Pancreas	Pancrea
30	chr3:43327600-43329200	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr3:43327600-43329400	Active TSS	Aorta	Aorta
32	chr3:43327600-43329400	Active TSS	Duodenum Mucosa	Duodenum
33	chr3:43327600-43329400	Active TSS	Esophagus	oesophagus
34	chr3:43327600-43329400	Active TSS	Fetal Intestine Large	intestine
35	chr3:43327600-43329400	Active TSS	Placenta	Placenta
36	chr3:43327600-43329400	Active TSS	Left Ventricle	heart
37	chr3:43327600-43329400	Active TSS	NHLF	lung
38	chr3:43327600-43329600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:43327600-43329800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:43327600-43330200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:43327600-43330200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:43327600-43330200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:43327600-43330200	Active TSS	Colon Smooth Muscle	Colon
44	chr3:43327600-43330200	Active TSS	Fetal Intestine Small	intestine
45	chr3:43327600-43330200	Active TSS	Rectal Smooth Muscle	rectum
46	chr3:43327600-43330400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr3:43327600-43330400	Active TSS	Primary T cells from cord blood	blood
48	chr3:43327600-43330400	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr3:43327600-43330400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr3:43327600-43330400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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