Variant report

Variant	rs3810434
Chromosome Location	chr19:18369211-18369212
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18368931-18369300	U87	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18366386..18369590-chr19:18499675..18502630,3	K562	blood:
2	chr19:18348762..18351903-chr19:18368580..18371202,3	K562	blood:
3	chr19:18367098..18369243-chr19:18385751..18387528,2	MCF-7	breast:
4	chr19:18365269..18367724-chr19:18368342..18370773,2	MCF-7	breast:
5	chr19:18368439..18371351-chr19:18378949..18380455,2	MCF-7	breast:
6	chr19:18219225..18221141-chr19:18367564..18369612,2	K562	blood:
7	chr19:18367818..18369812-chr19:18780764..18782671,2	K562	blood:

No data

Variant related genes	Relation type
PDE4C	TF binding region
ENSG00000099308	Chromatin interaction
ENSG00000105650	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1035363	0.87[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11086099	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12459276	0.95[ASN][1000 genomes]
rs12460547	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs12461561	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12461701	0.90[CEU][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap]
rs12608744	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12608843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12608869	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1477269	0.95[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477271	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1549143	0.95[CEU][hapmap]
rs2287656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2287657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2384989	0.94[ASN][1000 genomes]
rs2891654	0.90[MKK][hapmap]
rs35768432	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs58555271	0.95[ASN][1000 genomes]
rs60452015	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60609985	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62120402	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72479531	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73523118	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73523119	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105176	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105503	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113654	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888666	0.86[CEU][hapmap];0.90[GIH][hapmap]
rs9710173	0.84[ASN][1000 genomes]
rs9710599	0.86[ASN][1000 genomes]
rs999814	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs999815	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	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
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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	136 gene(s)	inside rSNPs	diseases
9	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
10	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
11	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription 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	35 gene(s)	inside rSNPs	diseases
12	nsv911264	chr19:18309365-18369644	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	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
15	nsv911265	chr19:18351674-18371197	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv911266	chr19:18351674-18375659	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv911267	chr19:18351674-18386798	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
19	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
20	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
21	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3810434	KIAA1683	cis	Thyroid	GTEx
rs3810434	ISYNA1	cis	cerebellum	SCAN
rs3810434	UBA52	cis	parietal	SCAN
rs3810434	KIAA1683	cis	cerebellum	SCAN
rs3810434	F2RL1	trans	parietal	SCAN
rs3810434	FAM129C	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18348600-18385200	Weak transcription	Right Atrium	heart
2	chr19:18361400-18375200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:18362800-18375400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr19:18363000-18375400	Weak transcription	Brain Angular Gyrus	brain
5	chr19:18365600-18375600	Weak transcription	Brain Substantia Nigra	brain
6	chr19:18366000-18375000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:18366000-18375200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:18366000-18377200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:18366200-18375400	Weak transcription	Liver	Liver
10	chr19:18366400-18373600	Weak transcription	Brain Germinal Matrix	brain
11	chr19:18366400-18375000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:18366400-18375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:18366400-18376800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:18366400-18389400	Weak transcription	Fetal Brain Male	brain
15	chr19:18366600-18373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:18366600-18373400	Weak transcription	Fetal Brain Female	brain
17	chr19:18366600-18373800	Weak transcription	Primary T cells from cord blood	blood
18	chr19:18366600-18373800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:18366600-18374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:18366600-18374400	Weak transcription	Stomach Mucosa	stomach
21	chr19:18366600-18374800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:18366600-18374800	Weak transcription	NHLF	lung
23	chr19:18366600-18375000	Weak transcription	Colonic Mucosa	Colon
24	chr19:18366600-18375000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:18366600-18375400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr19:18366600-18375400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:18366600-18377400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr19:18366600-18385400	Weak transcription	Primary B cells from cord blood	blood
29	chr19:18366600-18385800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:18366600-18390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:18366800-18375000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:18367000-18373600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:18367200-18374200	Strong transcription	Fetal Stomach	stomach
34	chr19:18367200-18374600	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:18367200-18375800	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:18367400-18374600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:18367600-18369400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:18367600-18369400	Strong transcription	Right Ventricle	heart
39	chr19:18367600-18369400	Strong transcription	Spleen	Spleen
40	chr19:18367600-18369600	Strong transcription	Brain Anterior Caudate	brain
41	chr19:18367600-18371400	Strong transcription	Ovary	ovary
42	chr19:18367600-18380400	Strong transcription	Fetal Muscle Leg	muscle
43	chr19:18367600-18381600	Strong transcription	Fetal Intestine Small	intestine
44	chr19:18367800-18369800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:18367800-18369800	Strong transcription	Lung	lung
46	chr19:18367800-18380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:18368000-18370800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:18368000-18373200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr19:18368400-18373800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:18368400-18374800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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