Variant report

Variant	rs8068484
Chromosome Location	chr17:19976394-19976395
allele	C/T
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	ELF1	chr17:19976314-19977099	GM12878	blood:	n/a	chr17:19976490-19976503
2	SPI1	chr17:19976315-19976633	GM12878	blood:	n/a	n/a
3	ELF1	chr17:19976279-19977000	GM12878	blood:	n/a	chr17:19976490-19976503
4	SPI1	chr17:19976382-19976690	GM12891	blood:	n/a	n/a
5	POLR2A	chr17:19976332-19977205	HL-60	blood:	n/a	n/a
6	SPI1	chr17:19976283-19976703	HL-60	blood:	n/a	n/a
7	ELF1	chr17:19976330-19976628	K562	blood:	n/a	chr17:19976490-19976503
8	SPI1	chr17:19976337-19976730	GM12891	blood:	n/a	n/a
9	SPI1	chr17:19976372-19976595	K562	blood:	n/a	n/a

Variant related genes	Relation type
SPECC1	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11204422	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11867585	0.83[JPT][hapmap]
rs11869931	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11870381	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11870673	0.83[ASN][1000 genomes]
rs12449914	0.91[AMR][1000 genomes]
rs12451216	0.90[ASN][1000 genomes]
rs12451841	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12453332	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12937327	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12942179	0.83[JPT][hapmap];0.98[ASN][1000 genomes]
rs12943904	0.89[AMR][1000 genomes]
rs12947713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12949710	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1468953	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1638526	0.90[JPT][hapmap]
rs17685923	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17686798	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17759041	0.91[AMR][1000 genomes]
rs17759609	0.90[AMR][1000 genomes]
rs17759959	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2072337	0.90[JPT][hapmap]
rs28424266	0.90[JPT][hapmap]
rs34370440	0.97[ASN][1000 genomes]
rs34756775	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35041742	0.84[ASN][1000 genomes]
rs35124809	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35156798	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35191778	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35244101	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35317166	0.94[AMR][1000 genomes]
rs35493088	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35770292	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35915823	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36051592	0.85[ASN][1000 genomes]
rs3862151	0.91[AMR][1000 genomes]
rs4141185	0.90[JPT][hapmap]
rs4341795	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4346259	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4350625	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4471741	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4570919	0.82[JPT][hapmap]
rs4924802	0.94[AMR][1000 genomes]
rs4924808	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4925071	0.91[AMR][1000 genomes]
rs4925074	0.91[AMR][1000 genomes]
rs4925075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4925076	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4925078	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4925082	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4925084	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4925088	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs56371654	0.94[AMR][1000 genomes]
rs62067488	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6587207	1.00[JPT][hapmap]
rs7207459	1.00[JPT][hapmap]
rs7209653	0.90[JPT][hapmap]
rs7215803	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7224875	1.00[JPT][hapmap]
rs7225249	0.91[JPT][hapmap]
rs7503407	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8066705	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs8074791	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs8075343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8080190	1.00[JPT][hapmap]
rs8081817	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs888424	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs972966	0.87[ASN][1000 genomes]
rs9897653	0.83[JPT][hapmap]
rs9901125	0.97[ASN][1000 genomes]
rs9901294	0.90[JPT][hapmap]
rs9915039	1.00[JPT][hapmap]
rs9944451	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv907872	chr17:19945841-19996140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1056224	chr17:19946604-19993026	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv543258	chr17:19946604-19993026	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1066594	chr17:19947874-19986671	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv543259	chr17:19947874-19986671	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8068484	SPECC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19968000-19977000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:19968200-19977000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:19969200-19976600	Weak transcription	Aorta	Aorta
4	chr17:19974200-19978000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:19975000-19976400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:19975000-19976600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:19975200-19976600	Enhancers	Brain Hippocampus Middle	brain
8	chr17:19975200-19976600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr17:19975200-19976600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr17:19975200-19976800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:19975200-19977000	Enhancers	Brain Cingulate Gyrus	brain
12	chr17:19975200-19977000	Enhancers	Ovary	ovary
13	chr17:19975200-19977600	Enhancers	K562	blood
14	chr17:19975400-19976400	Enhancers	GM12878-XiMat	blood
15	chr17:19975400-19976600	Enhancers	Brain Anterior Caudate	brain
16	chr17:19975400-19976800	Enhancers	Fetal Thymus	thymus
17	chr17:19975400-19977000	Enhancers	Brain Substantia Nigra	brain
18	chr17:19975400-19978000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:19975400-19978800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr17:19975600-19976600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:19975600-19976600	Enhancers	Adipose Nuclei	Adipose
22	chr17:19975600-19976600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr17:19975600-19976800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:19975600-19976800	Enhancers	Fetal Muscle Leg	muscle
25	chr17:19975600-19976800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr17:19975600-19977200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:19975600-19977600	Enhancers	Brain Germinal Matrix	brain
28	chr17:19975800-19976400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr17:19975800-19976400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr17:19975800-19976800	Enhancers	Brain Angular Gyrus	brain
31	chr17:19975800-19977000	Enhancers	Fetal Muscle Trunk	muscle
32	chr17:19975800-19977200	Enhancers	A549	lung
33	chr17:19975800-19977600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr17:19975800-19978000	Enhancers	NHDF-Ad	bronchial
35	chr17:19975800-19978200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:19976000-19976400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:19976000-19976400	Enhancers	Thymus	Thymus
38	chr17:19976000-19976600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr17:19976000-19976600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr17:19976000-19976600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr17:19976000-19976800	Enhancers	Primary B cells from peripheral blood	blood
42	chr17:19976000-19976800	Weak transcription	Esophagus	oesophagus
43	chr17:19976000-19977000	Weak transcription	Left Ventricle	heart
44	chr17:19976000-19977000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr17:19976000-19977000	Weak transcription	Right Atrium	heart
46	chr17:19976000-19977000	Weak transcription	Right Ventricle	heart
47	chr17:19976000-19978200	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr17:19976000-19978200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:19976200-19976400	Enhancers	Primary B cells from cord blood	blood
50	chr17:19976200-19976600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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