Variant report

Variant	rs8107194
Chromosome Location	chr19:39942569-39942570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39940271..39942805-chr19:39948760..39951555,2	K562	blood:
2	chr19:39935874..39939809-chr19:39940244..39944491,6	K562	blood:
3	chr19:39935025..39939391-chr19:39941670..39945820,7	MCF-7	breast:
4	chr19:39942312..39943933-chr19:40028859..40031086,2	K562	blood:
5	chr19:39942379..39944725-chr19:39959348..39962188,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176396	Chromatin interaction
ENSG00000196235	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10412931	0.93[ASW][hapmap];0.89[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs10423537	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10424217	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1110627	0.93[ASW][hapmap];0.92[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs1130180	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12609112	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12978920	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12978954	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12979605	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12983040	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1529732	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17626	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs17628	0.81[ASN][1000 genomes]
rs1865091	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1865092	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1932	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2009970	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2060270	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2060271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2060272	0.87[EUR][1000 genomes]
rs2116932	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2288933	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288934	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2304219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304221	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2353678	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2353679	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs251855	0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs251856	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251857	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251858	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs251859	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251860	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28528765	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28637729	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28649498	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31725	0.81[GIH][hapmap]
rs31727	0.92[CEU][hapmap];0.82[CHB][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs31728	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34918990	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35647910	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4390710	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802026	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803237	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803241	0.90[CHB][hapmap];0.86[JPT][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803242	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803245	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803246	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4803247	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803250	0.83[EUR][1000 genomes]
rs480595	0.81[ASN][1000 genomes]
rs480656	0.81[ASN][1000 genomes]
rs481421	0.86[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs504017	0.85[ASN][1000 genomes]
rs530411	0.91[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs564577	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap]
rs566130	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59007555	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs640000	0.81[ASN][1000 genomes]
rs6508862	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6508863	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6508864	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6508865	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs651601	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs686956	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7251384	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7251652	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7255253	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257526	0.93[ASW][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs73035416	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73549933	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110134	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8110716	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8111260	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs878754	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911685	chr19:39888449-39948779	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv1791966	chr19:39921479-39954931	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
6	nsv544003	chr19:39937078-39974282	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8107194	RPS16	cis	Heart Left Ventricle	GTEx
rs8107194	GRIK5	cis	parietal	SCAN
rs8107194	BCAM	cis	parietal	SCAN
rs8107194	B3GNT8	cis	parietal	SCAN
rs8107194	RPS16	cis	lymphoblastoid	seeQTL
rs8107194	NUMBL	cis	parietal	SCAN
rs8107194	RPS16	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39936800-39949200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:39937000-39949000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:39937000-39971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:39937200-39943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:39937400-39942800	Weak transcription	Fetal Kidney	kidney
6	chr19:39937400-39944600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:39937400-39971000	Weak transcription	Right Atrium	heart
8	chr19:39937600-39946000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:39937600-39950000	Weak transcription	Fetal Brain Male	brain
10	chr19:39937800-39943400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:39937800-39946200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:39938200-39942800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:39938600-39967600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:39938800-39943800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:39938800-39946400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:39939000-39946000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:39939000-39950000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:39939000-39953400	Strong transcription	Fetal Intestine Small	intestine
19	chr19:39939200-39948800	Weak transcription	Stomach Mucosa	stomach
20	chr19:39939200-39967600	Strong transcription	Fetal Thymus	thymus
21	chr19:39939400-39942600	Weak transcription	Colonic Mucosa	Colon
22	chr19:39939400-39942600	Weak transcription	Ovary	ovary
23	chr19:39939400-39942800	Weak transcription	Aorta	Aorta
24	chr19:39939400-39943400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:39939400-39943600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:39939400-39943800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:39939400-39943800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:39939400-39943800	Weak transcription	Colon Smooth Muscle	Colon
29	chr19:39939400-39944600	Weak transcription	NHDF-Ad	bronchial
30	chr19:39939400-39945400	Weak transcription	HSMMtube	muscle
31	chr19:39939400-39945800	Strong transcription	Fetal Muscle Leg	muscle
32	chr19:39939400-39946000	Strong transcription	Lung	lung
33	chr19:39939400-39946000	Strong transcription	NHEK	skin
34	chr19:39939400-39968800	Strong transcription	Fetal Stomach	stomach
35	chr19:39939600-39943000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:39940000-39942600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr19:39940000-39942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:39940000-39942600	Weak transcription	HUVEC	blood vessel
39	chr19:39940000-39942800	Weak transcription	NHLF	lung
40	chr19:39940000-39943600	Weak transcription	NH-A	brain
41	chr19:39940000-39945800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr19:39940000-39945800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr19:39940000-39948000	Weak transcription	Psoas Muscle	Psoas
44	chr19:39940000-39950400	Weak transcription	Small Intestine	intestine
45	chr19:39940000-39952200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:39940000-39968000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr19:39940200-39942600	Weak transcription	Brain Hippocampus Middle	brain
48	chr19:39940200-39942600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr19:39940200-39942800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:39940200-39943200	Weak transcription	Primary B cells from cord blood	blood

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