Variant report

Variant	rs7647197
Chromosome Location	chr3:43546920-43546921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43517843..43519347-chr3:43545726..43548708,2	K562	blood:
2	chr3:43538037..43539732-chr3:43544566..43547525,2	K562	blood:
3	chr3:43545523..43548631-chr3:43732332..43734797,3	K562	blood:
4	chr3:43546794..43548606-chr3:43567828..43570697,2	K562	blood:
5	chr3:43545909..43549101-chr3:43550069..43553920,5	K562	blood:
6	chr3:43545391..43549472-chr3:43550069..43554434,5	K562	blood:

Variant related genes	Relation type
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction

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	0.80[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	0.82[AFR][1000 genomes]
rs2135510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2888311	0.89[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[MEX][hapmap];1.00[MKK][hapmap];0.90[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[MEX][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682681	1.00[ASW][hapmap];0.84[LWK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682684	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682688	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682884	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[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[MEX][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs6767741	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6775392	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6784075	1.00[YRI][hapmap];0.94[AFR][1000 genomes];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	0.90[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[MEX][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906156	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906157	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906158	0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9311342	1.00[AMR][1000 genomes]
rs937827	1.00[ASW][hapmap];0.90[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]
rs9816887	1.00[MEX][hapmap]
rs9816915	1.00[MEX][hapmap]
rs984345	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9846341	0.87[AFR][1000 genomes]
rs9847454	0.89[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43504800-43553400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:43526000-43560800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:43527200-43560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:43533000-43553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:43539200-43575000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:43539600-43558800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:43539800-43553800	Weak transcription	HSMMtube	muscle
8	chr3:43540000-43548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:43540000-43554200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:43540000-43554400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:43540000-43556600	Weak transcription	Fetal Intestine Small	intestine
12	chr3:43540000-43582000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:43540200-43550800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:43540200-43554000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:43540200-43559000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:43540200-43564600	Weak transcription	NHEK	skin
17	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:43540400-43547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:43540600-43560800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:43540800-43554200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:43540800-43559200	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:43541200-43548600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:43541600-43559000	Weak transcription	Adipose Nuclei	Adipose
24	chr3:43541800-43558600	Weak transcription	Aorta	Aorta
25	chr3:43542000-43559000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:43542800-43588800	Weak transcription	Left Ventricle	heart
27	chr3:43544000-43548000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:43544000-43548000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:43544000-43548600	Weak transcription	Psoas Muscle	Psoas
30	chr3:43544000-43617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:43544200-43554000	Weak transcription	HSMM	muscle
32	chr3:43544200-43558200	Weak transcription	Lung	lung
33	chr3:43544200-43558600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:43544400-43560200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:43545200-43559200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:43545200-43560200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:43546400-43547200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:43546400-43552800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:43546400-43561000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:43546600-43547000	Weak transcription	Liver	Liver
41	chr3:43546600-43547200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:43546600-43547400	Enhancers	NHDF-Ad	bronchial
43	chr3:43546800-43547200	Enhancers	NHLF	lung
44	chr3:43546800-43547200	Enhancers	Osteobl	bone
45	chr3:43546800-43549200	Enhancers	K562	blood

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