Variant report

Variant	rs3814983
Chromosome Location	chr19:36106337-36106338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36099231..36101365-chr19:36104806..36106738,2	K562	blood:
2	chr19:36103494..36107429-chr19:36109770..36112878,4	MCF-7	breast:
3	chr19:36104768..36106692-chr19:36109509..36111994,2	MCF-7	breast:
4	chr19:36105388..36109287-chr19:36131670..36134423,3	MCF-7	breast:
5	chr19:36104355..36106456-chr19:36114819..36117211,2	MCF-7	breast:
6	chr19:36105395..36107902-chr19:36112782..36114444,2	MCF-7	breast:
7	chr19:36105605..36107645-chr19:36117963..36120587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105672	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000249115	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10410294	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10415676	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439089	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12461025	0.82[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1858844	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs1989801	0.94[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2285413	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826999	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4447555	0.80[ASN][1000 genomes]
rs6510501	0.81[CEU][hapmap];0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs8100735	0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.82[ASN][1000 genomes]
rs8106576	0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8107941	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8113090	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9304873	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3814983	CEACAM4	cis	parietal	SCAN
rs3814983	LTBP4	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36104200-36107600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36104200-36109200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36104200-36118800	Weak transcription	Left Ventricle	heart
4	chr19:36104200-36119000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:36104200-36119000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:36104200-36119000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:36104200-36119000	Weak transcription	Colonic Mucosa	Colon
8	chr19:36104200-36119000	Weak transcription	Psoas Muscle	Psoas
9	chr19:36104200-36119000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr19:36104200-36119000	Weak transcription	HSMMtube	muscle
11	chr19:36104200-36119200	Weak transcription	Aorta	Aorta
12	chr19:36104400-36106600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:36104400-36107400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr19:36104400-36107600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:36104400-36107600	Weak transcription	HepG2	liver
16	chr19:36104400-36107600	Weak transcription	NHEK	skin
17	chr19:36104400-36107800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:36104400-36107800	Weak transcription	Fetal Kidney	kidney
19	chr19:36104400-36108000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr19:36104400-36109000	Weak transcription	Right Ventricle	heart
21	chr19:36104400-36111000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr19:36104400-36118800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:36104400-36118800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr19:36104400-36118800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:36104400-36118800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:36104400-36119000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:36104400-36119000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr19:36104400-36119000	Weak transcription	Colon Smooth Muscle	Colon
29	chr19:36104400-36119000	Weak transcription	Small Intestine	intestine
30	chr19:36104400-36119000	Weak transcription	HSMM	muscle
31	chr19:36104400-36119000	Weak transcription	HUVEC	blood vessel
32	chr19:36104400-36119000	Weak transcription	NHDF-Ad	bronchial
33	chr19:36104400-36119000	Weak transcription	Osteobl	bone
34	chr19:36104400-36119200	Weak transcription	NH-A	brain
35	chr19:36104600-36106400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:36104600-36106400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:36104600-36106600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr19:36104600-36110600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:36104600-36111200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:36104600-36114200	Strong transcription	Fetal Intestine Small	intestine
41	chr19:36104800-36107800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:36104800-36107800	Weak transcription	Pancreas	Pancrea
43	chr19:36104800-36108400	Weak transcription	HMEC	breast
44	chr19:36104800-36113800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr19:36104800-36114000	Strong transcription	Fetal Stomach	stomach
46	chr19:36104800-36119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:36104800-36119000	Weak transcription	K562	blood
48	chr19:36104800-36119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:36104800-36119200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:36105000-36107800	Weak transcription	Primary T cells fromperipheralblood	blood

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