Variant report

Variant	rs1796229
Chromosome Location	chr7:66119661-66119662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31619887..31620869-chr7:66119424..66120022,2	Hela-S3	cervix:
2	chr7:66119236..66121485-chr7:66204940..66206778,2	K562	blood:
3	chr7:66119490..66121348-chr7:66145844..66148158,2	K562	blood:
4	chr7:66055738..66058439-chr7:66119494..66121209,2	MCF-7	breast:
5	chr5:38845869..38846666-chr7:66119372..66120019,2	Hela-S3	cervix:
6	chr7:66057103..66058075-chr7:66118859..66119855,2	MCF-7	breast:
7	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
8	chr11:65728585..65729440-chr7:66119233..66119914,2	Hela-S3	cervix:
9	chr15:65477549..65478089-chr7:66119158..66119930,2	NB4	blood:
10	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:
11	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
12	chr7:66118570..66121104-chr7:66386256..66388029,2	K562	blood:
13	chr7:66119464..66119965-chr7:66146773..66147348,2	MCF-7	breast:
14	chr14:50233938..50234677-chr7:66119528..66120183,2	Hela-S3	cervix:
15	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
16	chr7:66118965..66120049-chr7:66146710..66147584,5	MCF-7	breast:
17	chr2:47403217..47403917-chr7:66119526..66120066,2	Hela-S3	cervix:
18	chr2:10262501..10263375-chr7:66119471..66120046,2	Hela-S3	cervix:
19	chr20:62205090..62205853-chr7:66119345..66120093,2	Hela-S3	cervix:
20	chr7:66119315..66119930-chr7:66205425..66206247,2	NB4	blood:
21	chr5:172260720..172261679-chr7:66119494..66120203,2	Hela-S3	cervix:
22	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
23	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000232559	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000165516	Chromatin interaction
ENSG00000130589	Chromatin interaction
ENSG00000166855	Chromatin interaction
ENSG00000113719	Chromatin interaction
ENSG00000145623	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000249740	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000175467	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1267816	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1267817	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1267818	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1267819	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1267820	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12698542	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13232193	0.86[AMR][1000 genomes]
rs13237344	0.86[AMR][1000 genomes]
rs13247442	0.84[ASN][1000 genomes]
rs1618893	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1638731	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1638734	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1638736	0.88[ASN][1000 genomes]
rs1796215	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1796220	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1796228	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1882655	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1922723	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2141924	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2178742	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2533287	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2533288	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2659903	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2659911	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659913	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707823	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707826	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707828	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707830	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2707831	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707832	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707833	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707838	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707840	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707844	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35370033	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3936	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60326618	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6460312	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66630579	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73135918	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv967445	chr7:66112743-66133589	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv3441217	chr7:66118067-66120865	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1796229	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs1796229	ASL	cis	multi-tissue	Pritchard
rs1796229	VKORC1L1	cis	Whole Blood	GTEx
rs1796229	GUSB	cis	Whole Blood	GTEx
rs1796229	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs1796229	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66118000-66121000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:66118200-66120800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:66118200-66120800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:66118200-66120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:66118200-66120800	Active TSS	Fetal Intestine Large	intestine
6	chr7:66118200-66121000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:66118200-66121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:66118200-66121200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:66118200-66121200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:66118200-66121200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:66118200-66121200	Active TSS	NHDF-Ad	bronchial
12	chr7:66118400-66120400	Active TSS	Small Intestine	intestine
13	chr7:66118400-66120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:66118400-66120600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:66118400-66120800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:66118400-66120800	Active TSS	Right Atrium	heart
17	chr7:66118400-66120800	Active TSS	GM12878-XiMat	blood
18	chr7:66118400-66120800	Active TSS	HMEC	breast
19	chr7:66118400-66121000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:66118400-66121000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:66118400-66121000	Active TSS	Brain Cingulate Gyrus	brain
22	chr7:66118400-66121000	Active TSS	Osteobl	bone
23	chr7:66118400-66121200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:66118400-66121400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:66118600-66119800	Active TSS	Placenta	Placenta
26	chr7:66118600-66120000	Active TSS	Primary T cells from cord blood	blood
27	chr7:66118600-66120000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:66118600-66120000	Active TSS	HepG2	liver
29	chr7:66118600-66120400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:66118600-66120400	Active TSS	HUVEC	blood vessel
31	chr7:66118600-66120600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:66118600-66120600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:66118600-66120600	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr7:66118600-66120600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:66118600-66120600	Active TSS	Liver	Liver
36	chr7:66118600-66120600	Active TSS	Brain Angular Gyrus	brain
37	chr7:66118600-66120600	Active TSS	Brain Substantia Nigra	brain
38	chr7:66118600-66120600	Active TSS	Colonic Mucosa	Colon
39	chr7:66118600-66120600	Active TSS	Duodenum Mucosa	Duodenum
40	chr7:66118600-66120600	Active TSS	Esophagus	oesophagus
41	chr7:66118600-66120600	Active TSS	Fetal Kidney	kidney
42	chr7:66118600-66120600	Active TSS	Psoas Muscle	Psoas
43	chr7:66118600-66120600	Active TSS	Stomach Mucosa	stomach
44	chr7:66118600-66120600	Active TSS	NH-A	brain
45	chr7:66118600-66120800	Active TSS	Brain Anterior Caudate	brain
46	chr7:66118600-66120800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr7:66118600-66120800	Active TSS	Fetal Brain Female	brain
48	chr7:66118600-66120800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr7:66118600-66120800	Active TSS	Hela-S3	cervix
50	chr7:66118600-66120800	Active TSS	K562	blood

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