Variant report

Variant	rs2288312
Chromosome Location	chr8:126021164-126021165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:126020746-126021661	K562	blood:	n/a	n/a
2	POLR2A	chr8:126020710-126021269	SK-N-MC	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126016227..126018490-chr8:126018578..126021256,2	MCF-7	breast:
2	chr1:149859050..149860817-chr8:126019264..126021671,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0196-5	chr8:126019131-126021316	l_3677_chr8:126016111-126021316_testes

No data

Variant related genes	Relation type
SQLE	TF binding region
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10086228	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10092712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10095967	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10096319	0.93[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10097947	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10102066	0.88[CEU][hapmap]
rs10104486	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10107270	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10111425	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1019705	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10481152	0.88[CEU][hapmap]
rs1156712	0.88[CEU][hapmap]
rs12542195	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12546285	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12546767	0.81[CHD][hapmap];0.82[YRI][hapmap]
rs12548192	0.84[CEU][hapmap]
rs12676128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12682006	0.94[CEU][hapmap];0.80[MEX][hapmap]
rs1319792	0.88[CEU][hapmap]
rs13248796	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13263702	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13264301	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13282919	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16900177	0.88[CEU][hapmap]
rs16900316	0.94[CEU][hapmap]
rs2033130	0.88[CEU][hapmap];0.80[MEX][hapmap]
rs2217132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288310	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303525	0.86[ASW][hapmap];0.87[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2384921	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28716650	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34818959	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3750236	0.82[CEU][hapmap]
rs3750237	0.83[CEU][hapmap]
rs3793447	0.94[CEU][hapmap]
rs4347009	1.00[CEU][hapmap]
rs4870932	0.88[CEU][hapmap]
rs4871568	0.92[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470326	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470327	0.88[CEU][hapmap]
rs6651230	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs6989556	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991343	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7003069	0.94[CEU][hapmap];0.83[AMR][1000 genomes]
rs7007960	0.88[CEU][hapmap]
rs7008915	0.94[CEU][hapmap]
rs7357375	0.83[GIH][hapmap];0.85[TSI][hapmap]
rs7813917	0.88[CEU][hapmap]
rs7832609	0.94[CEU][hapmap];0.83[MEX][hapmap]
rs9297709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs966945	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2288312	FAM91A1	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126011800-126034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:126012400-126029200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:126012600-126027000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:126012600-126029000	Weak transcription	Colonic Mucosa	Colon
5	chr8:126013200-126024200	Weak transcription	Gastric	stomach
6	chr8:126013200-126028200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:126013200-126029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:126013400-126029200	Weak transcription	Lung	lung
9	chr8:126013400-126029200	Weak transcription	Spleen	Spleen
10	chr8:126013400-126029400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
13	chr8:126013600-126024000	Weak transcription	Fetal Kidney	kidney
14	chr8:126013600-126024200	Weak transcription	Primary T cells from cord blood	blood
15	chr8:126013600-126028800	Weak transcription	Thymus	Thymus
16	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:126013800-126024000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:126013800-126024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:126013800-126024200	Weak transcription	Esophagus	oesophagus
20	chr8:126013800-126029000	Weak transcription	Ovary	ovary
21	chr8:126014200-126026200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:126014200-126029200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:126014400-126024000	Weak transcription	Fetal Heart	heart
24	chr8:126014400-126027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:126014400-126029000	Weak transcription	Aorta	Aorta
26	chr8:126014400-126029000	Weak transcription	Fetal Stomach	stomach
27	chr8:126014400-126029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:126014400-126029800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:126014400-126031400	Strong transcription	NHDF-Ad	bronchial
30	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
31	chr8:126015000-126024000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:126015000-126024400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:126015200-126026000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:126015400-126025400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:126015400-126029400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:126015400-126036800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr8:126015400-126037400	Strong transcription	A549	lung
38	chr8:126015400-126037600	Strong transcription	HSMM	muscle
39	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:126015600-126021200	Strong transcription	Hela-S3	cervix
41	chr8:126015600-126029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:126015600-126029000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:126015600-126031400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:126015600-126031600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:126015600-126037000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:126015600-126039000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:126015600-126041000	Strong transcription	Fetal Thymus	thymus
48	chr8:126015800-126023800	Weak transcription	Brain Anterior Caudate	brain
49	chr8:126015800-126024000	Weak transcription	Brain Substantia Nigra	brain
50	chr8:126015800-126037400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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