Variant report

Variant	rs4682688
Chromosome Location	chr3:43539020-43539021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43537054..43539250-chr3:43539442..43541239,2	K562	blood:
2	chr3:43538037..43539732-chr3:43544566..43547525,2	K562	blood:
3	chr3:43538412..43541207-chr3:43562401..43564884,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11129997	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11129998	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11130003	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs1120779	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11713302	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12495394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12497714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1472807	1.00[AMR][1000 genomes]
rs1506618	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036616	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2135510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2888311	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4339089	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4346523	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4420837	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4569634	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4618196	1.00[AMR][1000 genomes]
rs4642093	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682681	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682684	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682884	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682889	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58089657	1.00[AMR][1000 genomes]
rs6441771	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6767741	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6775392	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6784075	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6793755	1.00[AMR][1000 genomes]
rs72866835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72866841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72866848	1.00[AMR][1000 genomes]
rs72866873	1.00[AMR][1000 genomes]
rs7616072	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7618790	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7620124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7628620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7632743	1.00[ASW][hapmap]
rs7636644	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7647197	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7648023	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906156	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906157	1.00[ASW][hapmap];1.00[LWK][hapmap];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]
rs9311342	1.00[AMR][1000 genomes]
rs937827	1.00[ASW][hapmap];0.81[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9755005	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9757381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs984345	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9846341	0.87[AFR][1000 genomes]
rs9847454	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9863775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9872346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9876963	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43473400-43541400	Weak transcription	Aorta	Aorta
2	chr3:43497000-43539400	Weak transcription	HSMM	muscle
3	chr3:43504800-43553400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:43522400-43539600	Weak transcription	HSMMtube	muscle
5	chr3:43524200-43539600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:43526000-43560800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:43527200-43560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:43531200-43542600	Weak transcription	Psoas Muscle	Psoas
9	chr3:43532400-43540800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:43532600-43540800	Weak transcription	Spleen	Spleen
11	chr3:43533000-43553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:43533200-43544800	Weak transcription	K562	blood
13	chr3:43533800-43539800	Weak transcription	Primary T cells from cord blood	blood
14	chr3:43538000-43539400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:43538000-43540800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:43538200-43539600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:43538200-43539800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:43538200-43539800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:43538200-43539800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:43538200-43539800	Enhancers	NH-A	brain
21	chr3:43538200-43540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:43538200-43540200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:43538200-43540200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:43538200-43540200	Enhancers	HMEC	breast
25	chr3:43538200-43540200	Enhancers	NHEK	skin
26	chr3:43538400-43540000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:43538400-43540000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:43538400-43541600	Enhancers	Adipose Nuclei	Adipose
29	chr3:43538400-43545200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr3:43538600-43539800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:43538600-43540400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:43538600-43540400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:43538800-43539200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:43538800-43539200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:43538800-43539200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:43538800-43539800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:43538800-43539800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:43538800-43540000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:43538800-43540000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:43538800-43540000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:43539000-43539200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr3:43539000-43539200	Enhancers	Right Atrium	heart
43	chr3:43539000-43539200	Enhancers	Small Intestine	intestine
44	chr3:43539000-43539600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:43539000-43539800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:43539000-43540000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:43539000-43540000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:43539000-43540000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:43539000-43540000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:43539000-43540000	Enhancers	NHLF	lung

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