Variant report

Variant	rs1549513
Chromosome Location	chr4:102340930-102340931
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:102340527-102341158	NB4	blood:	n/a	n/a
2	FOXM1	chr4:102340332-102340969	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr4:102340360-102340969	GM12878	blood:	n/a	n/a
4	SPI1	chr4:102340474-102340941	HL-60	blood:	n/a	chr4:102340674-102340681

Variant related genes	Relation type
BANK1	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10007821	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10007902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10009249	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10017730	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10027194	0.89[EUR][1000 genomes]
rs1031033	0.96[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap]
rs1031034	0.96[CEU][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap]
rs10433980	0.91[EUR][1000 genomes]
rs10433981	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10433982	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10433984	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11097747	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1125180	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12499349	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12642424	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12649313	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13108283	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13109704	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13132496	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13135111	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13135270	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13135441	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13143896	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13148622	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13148645	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1348161	0.96[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap]
rs1372242	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1441433	0.81[JPT][hapmap]
rs1476159	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1530259	0.96[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap]
rs1549514	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549515	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1583911	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1596061	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1822168	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1822169	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1946946	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2013410	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2044044	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs210811	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2119591	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2119592	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2119593	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2119594	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2119595	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2119596	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2433297	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2433298	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2433299	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2433311	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2583385	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2583386	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2583387	0.91[EUR][1000 genomes]
rs2583389	0.96[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2583392	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs2583394	0.96[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap]
rs2583395	0.96[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap]
rs2583398	0.96[CEU][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap]
rs2583399	0.96[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap]
rs2583406	0.81[JPT][hapmap]
rs2850326	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs2850329	0.84[EUR][1000 genomes]
rs2850330	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2850331	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2850333	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2850334	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2850356	0.80[JPT][hapmap]
rs2850366	0.96[CEU][hapmap]
rs2850367	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs2850369	0.96[CEU][hapmap]
rs2850370	0.96[CEU][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs2850371	0.96[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap]
rs2866376	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs293207	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs293209	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs293210	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs293211	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs293212	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs293213	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs293214	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs293215	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs293216	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs293217	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4235418	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4312760	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4452435	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4574415	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4698957	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699209	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4699210	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4699211	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4699212	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699213	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699214	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61478357	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6532928	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6532929	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6532930	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6532931	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6532933	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6532934	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6532935	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6816400	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6824603	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6825658	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6842703	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6845368	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6846097	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6847376	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6852377	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6856370	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7668224	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7670594	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7670922	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7677595	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7687487	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7690316	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs833945	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs833946	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs833948	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs833949	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs833955	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs920559	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1009302	chr4:102335072-102410893	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1549513	AP001816.1	cis	Whole Blood	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102336400-102341600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr4:102336800-102341400	Weak transcription	Adipose Nuclei	Adipose
3	chr4:102337800-102341400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr4:102337800-102341600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:102338000-102342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:102338200-102341800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:102338400-102341600	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:102338400-102341600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:102338400-102341800	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:102338600-102341200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:102338800-102341400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:102339200-102341000	Flanking Active TSS	GM12878-XiMat	blood
13	chr4:102339200-102341200	Enhancers	Primary B cells from cord blood	blood
14	chr4:102339200-102341200	Enhancers	Thymus	Thymus
15	chr4:102339200-102341400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:102339400-102341200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr4:102339400-102341200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr4:102339400-102341800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr4:102339600-102341200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:102339600-102341400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr4:102339600-102341400	Enhancers	HUVEC	blood vessel
22	chr4:102339600-102342200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:102339800-102341000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:102340000-102341000	Enhancers	Primary T cells from cord blood	blood
25	chr4:102340000-102341400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr4:102340200-102341600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:102340400-102341000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:102340400-102341200	Enhancers	Fetal Thymus	thymus
29	chr4:102340400-102341400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:102340400-102341400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:102340400-102341600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:102340400-102341600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr4:102340400-102341800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:102340400-102341800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:102340600-102341000	Enhancers	Brain Anterior Caudate	brain
36	chr4:102340600-102341000	Enhancers	Brain Cingulate Gyrus	brain
37	chr4:102340600-102341000	Enhancers	Fetal Intestine Large	intestine
38	chr4:102340600-102341000	Flanking Active TSS	Dnd41	blood
39	chr4:102340600-102341200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:102340600-102341600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:102340600-102341800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:102340600-102342000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:102340800-102341200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr4:102340800-102341200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr4:102340800-102341400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:102340800-102341600	Enhancers	Fetal Kidney	kidney

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