Variant report

Variant	rs7650774
Chromosome Location	chr3:119205050-119205051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119204680..119206850-chr3:119215269..119217444,2	K562	blood:
2	chr3:119187885..119189873-chr3:119203164..119205155,2	K562	blood:
3	chr3:119201366..119207142-chr3:119210949..119217240,7	K562	blood:

Variant related genes	Relation type
ENSG00000113845	Chromatin interaction
ENSG00000272662	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1131265	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1132200	0.84[CEU][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs12494314	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12636784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13078855	1.00[MEX][hapmap];0.81[TSI][hapmap]
rs13092998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2293370	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305249	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34844599	0.86[AMR][1000 genomes]
rs3732421	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57271503	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62264485	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9834901	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9843355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9855065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9884090	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119188400-119216200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:119188400-119216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:119188600-119216200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:119188800-119216200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:119189000-119216200	Weak transcription	Stomach Mucosa	stomach
6	chr3:119189000-119216200	Weak transcription	HUVEC	blood vessel
7	chr3:119189000-119216600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:119189600-119205400	Weak transcription	Hela-S3	cervix
9	chr3:119189600-119209200	Strong transcription	Primary B cells from cord blood	blood
10	chr3:119189600-119211800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr3:119189600-119211800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:119189800-119210000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:119189800-119211400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:119189800-119212200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:119189800-119216000	Weak transcription	Fetal Heart	heart
16	chr3:119190000-119211800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:119190000-119212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:119190000-119212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:119190400-119212200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:119190600-119211800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:119190600-119212000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:119190800-119216400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:119191000-119216400	Weak transcription	Fetal Brain Male	brain
24	chr3:119192000-119209800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:119192400-119207200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:119192400-119216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:119194200-119205400	Weak transcription	NHLF	lung
28	chr3:119195800-119212000	Strong transcription	Liver	Liver
29	chr3:119196400-119216200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:119196400-119216600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:119196800-119216800	Weak transcription	Small Intestine	intestine
32	chr3:119197000-119211200	Weak transcription	K562	blood
33	chr3:119197000-119216400	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:119197400-119205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:119197400-119216600	Weak transcription	Aorta	Aorta
36	chr3:119198200-119208200	Weak transcription	Fetal Intestine Small	intestine
37	chr3:119201600-119206800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr3:119201600-119207600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr3:119201600-119208000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr3:119201800-119205400	Weak transcription	Fetal Stomach	stomach
41	chr3:119201800-119209400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr3:119201800-119209600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:119202400-119211600	Strong transcription	GM12878-XiMat	blood
44	chr3:119202400-119211800	Strong transcription	Fetal Brain Female	brain
45	chr3:119202400-119212000	Strong transcription	Primary T cells from cord blood	blood
46	chr3:119202400-119213800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:119202600-119211800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr3:119202800-119206000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:119202800-119206000	Strong transcription	Brain Substantia Nigra	brain
50	chr3:119202800-119208000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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