Variant report

Variant	rs1622330
Chromosome Location	chr7:66127418-66127419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66127237..66129875-chr7:66131480..66133745,3	K562	blood:
2	chr7:66091921..66093533-chr7:66126836..66128952,2	K562	blood:
3	chr7:66118018..66119679-chr7:66125379..66127890,2	K562	blood:

Variant related genes	Relation type
ENSG00000226824	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13247166	1.00[AFR][1000 genomes]
rs1638736	0.86[EUR][1000 genomes]
rs1962049	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56165921	0.83[EUR][1000 genomes]
rs66510832	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1622330	ASL	cis	multi-tissue	Pritchard
rs1622330	GUSB	cis	Whole Blood	GTEx
rs1622330	VKORC1L1	cis	Whole Blood	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66120400-66127600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:66120600-66127600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:66120600-66127600	Weak transcription	Fetal Brain Male	brain
4	chr7:66120600-66127600	Weak transcription	Fetal Kidney	kidney
5	chr7:66120600-66127600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:66120600-66127600	Weak transcription	Thymus	Thymus
7	chr7:66120600-66129600	Weak transcription	Brain Substantia Nigra	brain
8	chr7:66120600-66129800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:66120600-66132400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:66120600-66146000	Weak transcription	Primary T cells from cord blood	blood
11	chr7:66120600-66146200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:66120800-66127600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:66120800-66127600	Weak transcription	Brain Germinal Matrix	brain
14	chr7:66120800-66132000	Weak transcription	Fetal Brain Female	brain
15	chr7:66120800-66143600	Weak transcription	GM12878-XiMat	blood
16	chr7:66120800-66146000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:66121000-66127600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:66121000-66139400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:66121000-66143600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:66121000-66144000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:66121000-66146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:66121000-66146200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:66121200-66130600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:66121200-66131400	Weak transcription	Brain Angular Gyrus	brain
25	chr7:66121200-66137800	Weak transcription	HMEC	breast
26	chr7:66121400-66127600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:66121400-66127600	Weak transcription	Left Ventricle	heart
28	chr7:66121400-66127600	Weak transcription	Pancreas	Pancrea
29	chr7:66121400-66130200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:66121400-66139800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:66121400-66146000	Weak transcription	Adipose Nuclei	Adipose
32	chr7:66121400-66146000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:66121600-66127600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:66121600-66127600	Weak transcription	Placenta	Placenta
35	chr7:66121600-66127600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:66121600-66127600	Weak transcription	Hela-S3	cervix
37	chr7:66121600-66130000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:66121600-66131800	Weak transcription	Right Ventricle	heart
39	chr7:66121600-66132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:66121600-66133200	Weak transcription	Osteobl	bone
41	chr7:66121600-66133400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:66121600-66133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:66121600-66133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:66121600-66133400	Weak transcription	NHEK	skin
45	chr7:66121600-66133400	Weak transcription	NHLF	lung
46	chr7:66121600-66137800	Weak transcription	NH-A	brain
47	chr7:66121600-66144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:66121600-66145400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:66121600-66146200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:66121600-66146200	Weak transcription	HSMMtube	muscle

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