Variant report

Variant	rs8111824
Chromosome Location	chr19:18525104-18525105
allele	G/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	CBX3	chr19:18524993-18526657	K562	blood:	n/a	n/a
2	NR2F2	chr19:18524998-18529278	K562	blood:	n/a	n/a
3	MAX	chr19:18524793-18525114	K562	blood:	n/a	chr19:18524916-18524926 chr19:18524916-18524926 chr19:18524914-18524927 chr19:18524916-18524925 chr19:18524915-18524926 chr19:18524915-18524925 chr19:18524915-18524925 chr19:18524915-18524926 chr19:18524916-18524925 chr19:18524915-18524926 chr19:18524917-18524926 chr19:18524914-18524927 chr19:18524915-18524926 chr19:18524916-18524925
4	POLR2A	chr19:18525060-18530554	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
2	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
3	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
4	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
5	chr19:18320883..18322593-chr19:18524287..18527226,2	K562	blood:
6	chr19:18450116..18452798-chr19:18524021..18525945,2	MCF-7	breast:
7	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
8	chr19:18508054..18515743-chr19:18523957..18529414,9	K562	blood:
9	chr19:18523615..18525395-chr19:18528501..18530653,2	MCF-7	breast:
10	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
11	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
12	chr19:18340431..18343253-chr19:18523946..18525951,2	K562	blood:
13	chr19:18458615..18460578-chr19:18524334..18527055,2	MCF-7	breast:
14	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
15	chr19:18416874..18418645-chr19:18525016..18527028,2	K562	blood:
16	chr10:129924418..129925027-chr19:18525010..18525744,2	HCT-116	colon:
17	chr19:18422324..18424215-chr19:18524858..18526512,2	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000221167	TF binding region
ENSG00000241464	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000148773	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000264175	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10402247	0.86[EUR][1000 genomes]
rs10402322	0.81[ASN][1000 genomes]
rs10409346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10409408	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10410797	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10416993	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10418554	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10420384	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10423802	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10426768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1045631	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11086110	0.81[ASW][hapmap];0.88[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11668704	0.85[ASN][1000 genomes]
rs11670392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11672385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11879757	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12980726	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12982295	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12983263	0.84[EUR][1000 genomes]
rs13344313	0.88[CHD][hapmap]
rs1469412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1469413	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1971093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2013069	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2162797	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2303692	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28534973	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2891676	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34213500	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35004712	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35336015	0.86[EUR][1000 genomes]
rs35742476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4006662	0.81[EUR][1000 genomes]
rs4303657	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4580317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4808135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4808802	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4808803	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4808805	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4808806	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4808807	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4808808	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4808811	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4808812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55715336	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57923655	0.81[EUR][1000 genomes]
rs6512268	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6512269	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6512270	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6512271	0.82[ASN][1000 genomes]
rs7246788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7247540	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7249760	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7251640	1.00[CHB][hapmap]
rs7252130	0.81[EUR][1000 genomes]
rs7252185	0.81[EUR][1000 genomes]
rs7255936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7256530	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7258891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259135	0.83[ASN][1000 genomes]
rs7507218	0.80[EUR][1000 genomes]
rs8100343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8102717	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8104247	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8106068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs8106332	0.81[EUR][1000 genomes]
rs8111397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8111582	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8112372	0.81[EUR][1000 genomes]
rs8112859	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs888668	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs888669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.96[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription 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	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs8111824	ZNF14	cis	parietal	SCAN
rs8111824	ISYNA1	cis	parietal	SCAN
rs8111824	ABHD8	cis	parietal	SCAN
rs8111824	CHERP	cis	cerebellum	SCAN
rs8111824	SSBP4	cis	lymphoblastoid	seeQTL
rs8111824	SSBP4	cis	cerebellum	SCAN
rs8111824	F2RL3	cis	cerebellum	SCAN
rs8111824	LOC646044///SSBP4	Cis_1M	lymphoblastoid	RTeQTL
rs8111824	SSBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18508400-18525400	Weak transcription	Right Atrium	heart
2	chr19:18508800-18525200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr19:18513000-18525600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:18519400-18525200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:18520400-18525200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:18520600-18525200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:18521600-18525200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:18521600-18525200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:18521600-18525200	Weak transcription	Fetal Kidney	kidney
10	chr19:18521600-18525200	Weak transcription	Hela-S3	cervix
11	chr19:18521600-18525400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:18521600-18525400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:18521600-18526400	Weak transcription	Pancreas	Pancrea
14	chr19:18521600-18527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:18521800-18525200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:18523600-18525200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:18524200-18525800	Enhancers	Brain Germinal Matrix	brain
18	chr19:18524600-18525400	Enhancers	Fetal Muscle Trunk	muscle
19	chr19:18524800-18525200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:18524800-18525200	Enhancers	Duodenum Mucosa	Duodenum
21	chr19:18524800-18525200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr19:18524800-18525400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:18524800-18525400	Enhancers	A549	lung
24	chr19:18524800-18525400	Enhancers	HepG2	liver
25	chr19:18524800-18525600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr19:18524800-18525600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr19:18524800-18525600	Enhancers	Fetal Muscle Leg	muscle
28	chr19:18524800-18525600	Enhancers	Dnd41	blood
29	chr19:18524800-18526000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:18524800-18526000	Enhancers	Fetal Brain Male	brain
31	chr19:18524800-18526000	Enhancers	Fetal Thymus	thymus
32	chr19:18524800-18527200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:18524800-18527400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr19:18524800-18527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:18524800-18527800	Flanking Active TSS	K562	blood
36	chr19:18524800-18528000	Enhancers	Primary hematopoietic stem cells	blood
37	chr19:18525000-18525200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
38	chr19:18525000-18525200	Enhancers	Osteobl	bone
39	chr19:18525000-18525400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:18525000-18525400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:18525000-18525400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:18525000-18525600	Enhancers	Fetal Stomach	stomach
43	chr19:18525000-18525600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr19:18525000-18525600	Enhancers	NHLF	lung
45	chr19:18525000-18525800	Enhancers	Fetal Intestine Large	intestine
46	chr19:18525000-18525800	Enhancers	Fetal Intestine Small	intestine
47	chr19:18525000-18525800	Flanking Active TSS	Fetal Lung	lung
48	chr19:18525000-18525800	Enhancers	Ovary	ovary
49	chr19:18525000-18526000	Enhancers	Placenta	Placenta
50	chr19:18525000-18526200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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