Variant report

Variant	rs10244273
Chromosome Location	chr7:150381356-150381357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150381356-150381406	SK-N-SH	brain:	n/a
2	chr7:150381356-150381406	HRE	kidney:	n/a
3	chr7:150381356-150381406	HUVEC	blood vessel:	n/a
4	chr7:150381356-150381406	AG09309	skin:	n/a
5	chr7:150381356-150381406	GM12892	blood:	n/a
6	chr7:150381356-150381406	AG04450	lung:	fetal
7	chr7:150381356-150381406	ProgFib	skin:	n/a
8	chr7:150381356-150381406	CMK	blood:	n/a
9	chr7:150381356-150381406	HL-60	blood:	n/a
10	chr7:150381356-150381406	MCF-7	breast:	n/a
11	chr7:150381356-150381406	SK-N-SH_RA	brain:	n/a
12	chr7:150381356-150381406	HEEpiC	esophagus:	n/a
13	chr7:150381356-150381406	NT2-D1	testis:	n/a
14	chr7:150381356-150381406	HRCEpiC	kidney:	n/a
15	chr7:150381356-150381406	T-47D	breast:	n/a
16	chr7:150381356-150381406	Hepatocyte	liver:	n/a
17	chr7:150381356-150381406	PrEC	prostate:	n/a
18	chr7:150381356-150381406	HIPEpiC	eye:	n/a
19	chr7:150381356-150381406	SKMC	muscle:	n/a
20	chr7:150381356-150381406	GM12878	blood:	n/a
21	chr7:150381356-150381406	NHBE	bronchial:	n/a
22	chr7:150381356-150381406	HCM	heart:	n/a
23	chr7:150381356-150381406	BE2_C	brain:	n/a
24	chr7:150381356-150381406	Jurkat	blood:	n/a
25	chr7:150381356-150381406	AoSMC	blood vessel:	n/a
26	chr7:150381356-150381406	HMEC	breast:	n/a
27	chr7:150381356-150381406	AG09319	gingival:	n/a
28	chr7:150381356-150381406	IMR90	lung:	fetal
29	chr7:150381356-150381406	LNCaP	prostate:	n/a
30	chr7:150381356-150381406	K562	blood:	n/a
31	chr7:150381356-150381406	HepG2	liver:	n/a
32	chr7:150381356-150381406	RPTEC	kidney:	n/a
33	chr7:150381356-150381406	SAEC	small airway:	n/a
34	chr7:150381356-150381406	SK-N-MC	brain:	n/a
35	chr7:150381356-150381406	U87	brain:	n/a
36	chr7:150381356-150381406	PFSK-1	brain:	n/a
37	chr7:150381356-150381406	BJ	skin:	n/a
38	chr7:150381356-150381406	NHDF-neo	bronchial:	n/a
39	chr7:150381356-150381406	NH-A	brain:	n/a
40	chr7:150381356-150381406	HRPEpiC	eye:	n/a
41	chr7:150381356-150381406	Hela-S3	cervix:	n/a
42	chr7:150381356-150381406	MCF10A-Er-Src	breast:	n/a
43	chr7:150381356-150381406	A549	lung:	n/a
44	chr7:150381356-150381406	GM12891	blood:	n/a
45	chr7:150381356-150381406	GM19239	blood:	n/a
46	chr7:150381356-150381406	NB4	blood:	n/a
47	chr7:150381356-150381406	HEK293	kidney:	embryo
48	chr7:150381356-150381406	HCPEpiC	choroid plexus:	n/a
49	chr7:150381356-150381406	HCF	heart:	n/a
50	chr7:150381356-150381406	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150380547..150382670-chr7:150386657..150389613,3	K562	blood:

No data

Variant related genes	Relation type
GIMAP2	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10225427	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232092	0.88[ASN][1000 genomes]
rs10952285	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs12703095	0.86[ASN][1000 genomes]
rs16884586	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1949696	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075078	0.92[CEU][hapmap];0.83[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs2110000	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2159843	0.92[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs2373848	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28691083	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35662160	0.81[ASN][1000 genomes]
rs4725927	0.86[EUR][1000 genomes]
rs55821597	0.88[ASN][1000 genomes]
rs62490381	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6464095	0.81[EUR][1000 genomes]
rs6953961	0.88[ASN][1000 genomes]
rs6978377	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10244273	ABCB8	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150375600-150382000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:150376200-150382000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:150380000-150382000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr7:150380000-150382000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr7:150380400-150381600	ZNF genes & repeats	GM12878-XiMat	blood
6	chr7:150380400-150382000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:150380400-150382200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:150380400-150382200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:150380400-150382600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr7:150380600-150381400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:150380800-150381400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:150380800-150381600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr7:150380800-150381600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:150380800-150381600	Enhancers	Thymus	Thymus
15	chr7:150380800-150381600	Flanking Active TSS	Dnd41	blood
16	chr7:150380800-150382200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:150380800-150382400	Enhancers	Small Intestine	intestine
18	chr7:150380800-150382600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr7:150380800-150382600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr7:150381000-150381400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:150381000-150381400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr7:150381000-150382200	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:150381000-150382200	Weak transcription	Fetal Thymus	thymus
24	chr7:150381200-150381400	Enhancers	Colon Smooth Muscle	Colon
25	chr7:150381200-150381600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr7:150381200-150382200	Enhancers	Adipose Nuclei	Adipose
27	chr7:150381200-150382400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr7:150381200-150382600	Enhancers	Spleen	Spleen

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