Variant report

Variant	rs9994702
Chromosome Location	chr4:15484151-15484152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15300680..15303495-chr4:15484147..15486519,2	K562	blood:
2	chr4:15481667..15484454-chr4:15772642..15775403,2	MCF-7	breast:
3	chr4:15475920..15478825-chr4:15482712..15485003,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10000250	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012928	1.00[ASN][1000 genomes]
rs10022530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212846	1.00[ASN][1000 genomes]
rs1024757	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1024760	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423869	1.00[CEU][hapmap]
rs4698110	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4698382	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838330	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719993	0.87[CEU][hapmap]
rs9990934	0.87[CEU][hapmap]
rs9993580	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993656	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995927	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9994702	FAM200B	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481200-15485200	Weak transcription	Right Ventricle	heart
2	chr4:15481400-15486200	Weak transcription	Spleen	Spleen
3	chr4:15481600-15484200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:15481600-15484400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:15481600-15484400	Weak transcription	Placenta	Placenta
6	chr4:15481600-15484400	Weak transcription	K562	blood
7	chr4:15481600-15484600	Weak transcription	Right Atrium	heart
8	chr4:15481600-15488000	Weak transcription	HSMMtube	muscle
9	chr4:15481600-15490200	Weak transcription	Esophagus	oesophagus
10	chr4:15481600-15498600	Weak transcription	Liver	Liver
11	chr4:15481600-15519000	Weak transcription	Gastric	stomach
12	chr4:15481800-15488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:15482000-15484200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:15482000-15485400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:15482000-15486400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:15482000-15486600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:15482000-15487000	Weak transcription	HSMM	muscle
18	chr4:15482000-15487600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:15482000-15489600	Weak transcription	Brain Substantia Nigra	brain
20	chr4:15482000-15491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:15482000-15491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:15482200-15484600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:15482200-15484600	Weak transcription	NHEK	skin
24	chr4:15482200-15485000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:15482200-15485000	Strong transcription	Fetal Intestine Small	intestine
26	chr4:15482200-15486200	Strong transcription	Fetal Stomach	stomach
27	chr4:15482200-15486400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:15482200-15486600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:15482200-15487600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:15482200-15490400	Weak transcription	A549	lung
31	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:15482400-15484600	Weak transcription	Fetal Brain Female	brain
33	chr4:15482400-15484800	Weak transcription	Fetal Lung	lung
34	chr4:15482400-15485000	Strong transcription	Fetal Intestine Large	intestine
35	chr4:15482400-15485200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:15482400-15485200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:15482400-15485600	Weak transcription	HepG2	liver
38	chr4:15482400-15486000	Weak transcription	Brain Anterior Caudate	brain
39	chr4:15482400-15486200	Strong transcription	Left Ventricle	heart
40	chr4:15482400-15486800	Weak transcription	Fetal Brain Male	brain
41	chr4:15482400-15489600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:15482600-15484200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr4:15482600-15484600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:15482600-15484600	Weak transcription	Fetal Heart	heart
45	chr4:15482600-15484800	Strong transcription	Osteobl	bone
46	chr4:15482600-15485000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:15482600-15485000	Genic enhancers	Colon Smooth Muscle	Colon
48	chr4:15482600-15485800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:15482600-15486400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:15482600-15486600	Strong transcription	Fetal Muscle Trunk	muscle

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