Variant report

Variant	rs4606419
Chromosome Location	chr10:98747114-98747115
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98741127..98743717-chr10:98745929..98748788,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10882854	0.80[CEU][hapmap]
rs10882857	0.83[EUR][1000 genomes]
rs11815437	0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs11819015	0.95[ASN][1000 genomes]
rs12571254	0.82[CHB][hapmap]
rs17112206	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs17112208	0.83[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs17112234	0.83[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs17112250	0.88[ASN][1000 genomes]
rs2183447	0.86[ASN][1000 genomes]
rs2185294	0.89[CEU][hapmap]
rs28523867	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3814162	0.83[EUR][1000 genomes]
rs3829856	0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4532970	0.89[CEU][hapmap]
rs4919058	0.80[CEU][hapmap]
rs4919060	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs4919061	0.83[EUR][1000 genomes]
rs57437078	0.98[ASN][1000 genomes]
rs57625543	0.86[ASN][1000 genomes]
rs7069290	0.89[CEU][hapmap]
rs7069617	0.85[CHB][hapmap]
rs7080839	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs72819857	0.85[ASN][1000 genomes]
rs72819858	0.86[ASN][1000 genomes]
rs7895214	0.89[CEU][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs7899594	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs7911787	0.83[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs7912176	0.89[CEU][hapmap]
rs9702665	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1052931	chr10:98676192-98862301	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1042398	chr10:98691406-98851346	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831951	chr10:98717103-98761280	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4606419	CWF19L1	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98734000-98748400	Weak transcription	Stomach Mucosa	stomach
2	chr10:98741200-98747800	Weak transcription	Psoas Muscle	Psoas
3	chr10:98741200-98758000	Weak transcription	K562	blood
4	chr10:98741600-98747600	Weak transcription	Ovary	ovary
5	chr10:98741600-98750600	Weak transcription	NHEK	skin
6	chr10:98741600-98751400	Weak transcription	Small Intestine	intestine
7	chr10:98741800-98748000	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:98742000-98748000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:98742000-98757000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr10:98742200-98747400	Weak transcription	NHLF	lung
11	chr10:98742200-98747800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:98742200-98748200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:98742200-98748200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr10:98742200-98750800	Weak transcription	HMEC	breast
15	chr10:98742200-98752200	Weak transcription	Colonic Mucosa	Colon
16	chr10:98742200-98754600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:98742200-98754600	Weak transcription	Right Ventricle	heart
18	chr10:98742200-98754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:98742200-98755000	Weak transcription	Left Ventricle	heart
20	chr10:98742400-98747400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:98742400-98747400	Weak transcription	Osteobl	bone
22	chr10:98742400-98747600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:98742400-98747800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr10:98742400-98748000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr10:98742400-98748000	Weak transcription	Fetal Kidney	kidney
26	chr10:98742400-98750200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr10:98742400-98750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:98742400-98751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:98742400-98751400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:98742400-98752400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:98742600-98748200	Weak transcription	Aorta	Aorta
32	chr10:98742600-98748400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:98742600-98750800	Weak transcription	A549	lung
34	chr10:98742600-98752600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:98742600-98752800	Weak transcription	Gastric	stomach
36	chr10:98742600-98755800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr10:98742600-98756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:98742600-98756800	Weak transcription	Lung	lung
39	chr10:98742800-98747600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:98742800-98747600	Weak transcription	Placenta	Placenta
41	chr10:98743000-98748000	Weak transcription	Fetal Lung	lung
42	chr10:98743000-98758600	Weak transcription	Spleen	Spleen
43	chr10:98743200-98749200	Weak transcription	HepG2	liver
44	chr10:98743400-98747800	Weak transcription	NH-A	brain
45	chr10:98743600-98747400	Weak transcription	HSMM	muscle
46	chr10:98743600-98750400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:98743600-98750400	Weak transcription	Fetal Intestine Large	intestine
48	chr10:98743800-98758000	Weak transcription	Fetal Brain Female	brain
49	chr10:98744000-98748200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:98744400-98752200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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