Variant report

Variant	rs6791682
Chromosome Location	chr3:43290649-43290650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43289737..43291817-chr3:43339501..43341574,2	K562	blood:
2	chr3:43264830..43267326-chr3:43290444..43292682,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10212591	0.83[AFR][1000 genomes]
rs11129997	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11129998	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11130003	0.82[YRI][hapmap]
rs1120779	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11713302	1.00[AMR][1000 genomes]
rs12632805	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1320157	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1320159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1472807	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1506618	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs1996496	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036616	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs2135510	1.00[AMR][1000 genomes]
rs2372353	1.00[AMR][1000 genomes]
rs2372357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2372358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2372359	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2888311	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4339089	1.00[AMR][1000 genomes]
rs4346523	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs4405884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4420837	1.00[AMR][1000 genomes]
rs4425230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4470482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4569634	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs4642093	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682681	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682684	1.00[AMR][1000 genomes]
rs4682884	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs4682889	1.00[AMR][1000 genomes]
rs4683365	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4683368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6441771	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs6442145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6765835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6766825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767741	1.00[AMR][1000 genomes]
rs6775392	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs6784075	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs6793755	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7616072	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7636644	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7648023	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7651091	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906156	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs906157	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs906158	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs937827	1.00[AMR][1000 genomes]
rs9755005	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs984345	1.00[AMR][1000 genomes]
rs9859465	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43285600-43290800	Enhancers	Adipose Nuclei	Adipose
3	chr3:43285800-43298400	Weak transcription	Left Ventricle	heart
4	chr3:43288200-43290800	Enhancers	Stomach Smooth Muscle	stomach
5	chr3:43288600-43293000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:43289400-43293000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:43289600-43290800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:43289600-43290800	Enhancers	Spleen	Spleen
9	chr3:43289800-43290800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:43289800-43296400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:43289800-43297400	Weak transcription	Primary B cells from cord blood	blood
12	chr3:43290000-43292800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:43290000-43292800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:43290000-43292800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:43290000-43294200	Weak transcription	Fetal Stomach	stomach
16	chr3:43290000-43296400	Weak transcription	Lung	lung
17	chr3:43290200-43291000	Enhancers	HUVEC	blood vessel
18	chr3:43290200-43292600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:43290200-43292800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:43290200-43292800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:43290200-43292800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:43290400-43292800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:43290400-43292800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:43290400-43293000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:43290400-43293800	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:43290400-43294800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:43290400-43299400	Weak transcription	Right Atrium	heart
28	chr3:43290600-43290800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:43290600-43290800	Enhancers	Brain Anterior Caudate	brain
30	chr3:43290600-43290800	Enhancers	Right Ventricle	heart
31	chr3:43290600-43290800	Enhancers	Skeletal Muscle Female	skeletal muscle

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