Variant report

Variant	rs16849151
Chromosome Location	chr4:73922549-73922550
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73921587..73923229-chr4:73923461..73925987,2	K562	blood:
2	chr4:73922534..73925184-chr4:73933484..73935543,3	MCF-7	breast:
3	chr4:73922246..73923981-chr4:73934544..73936555,2	K562	blood:
4	chr4:73919855..73923746-chr4:73932924..73936555,4	K562	blood:

Variant related genes	Relation type
ENSG00000163626	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10028486	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap]
rs11933644	1.00[ASW][hapmap];0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs16849102	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16849106	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16849108	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16849146	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849172	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16849185	1.00[ASW][hapmap];0.94[CEU][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap]
rs2061574	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061575	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061576	0.94[ASN][1000 genomes]
rs2061577	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306057	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366716	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28373296	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28460851	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28709646	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.96[ASN][1000 genomes]
rs28776801	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3796680	0.84[ASN][1000 genomes]
rs4019514	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4615148	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4631009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4694589	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56235322	0.93[ASN][1000 genomes]
rs56382488	0.93[ASN][1000 genomes]
rs57330350	0.97[ASN][1000 genomes]
rs61149200	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61468561	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61661011	0.83[ASN][1000 genomes]
rs67995155	0.83[EUR][1000 genomes]
rs6824334	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs6845845	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6849701	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6851670	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72859248	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859249	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72861861	0.87[EUR][1000 genomes]
rs7661799	0.87[EUR][1000 genomes]
rs7670286	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7674847	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7675007	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7675027	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7676278	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7679277	1.00[ASW][hapmap];0.94[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs7687433	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7690799	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7691344	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7692425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7692749	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7694505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16849151	C4orf7	cis	cerebellum	SCAN
rs16849151	KIAA1751	trans	parietal	SCAN
rs16849151	AFP	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73911000-73922600	Weak transcription	Spleen	Spleen
2	chr4:73911400-73924600	Weak transcription	Pancreas	Pancrea
3	chr4:73915200-73922800	Weak transcription	Right Ventricle	heart
4	chr4:73915200-73925600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:73916200-73924400	Weak transcription	A549	lung
6	chr4:73917200-73923800	Weak transcription	Gastric	stomach
7	chr4:73917200-73931000	Weak transcription	Fetal Heart	heart
8	chr4:73917200-73933800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:73917400-73922600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:73917400-73932000	Weak transcription	Psoas Muscle	Psoas
11	chr4:73917600-73922600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:73917600-73923800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:73917800-73923400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:73917800-73924600	Weak transcription	Esophagus	oesophagus
15	chr4:73918000-73924600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:73918000-73924800	Weak transcription	NHEK	skin
17	chr4:73918400-73922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:73918400-73922600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:73918400-73922600	Weak transcription	Fetal Stomach	stomach
20	chr4:73918600-73933000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr4:73918800-73930200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr4:73918800-73932200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:73918800-73933400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:73919000-73926000	Strong transcription	Thymus	Thymus
25	chr4:73919000-73928600	Strong transcription	Fetal Intestine Large	intestine
26	chr4:73919000-73931400	Strong transcription	Liver	Liver
27	chr4:73919000-73932000	Strong transcription	Fetal Thymus	thymus
28	chr4:73919000-73932600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:73919000-73932800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:73919200-73928000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:73919200-73928200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:73919200-73930200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr4:73919200-73931200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr4:73919200-73931200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:73919200-73932200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:73919400-73923600	Weak transcription	NHLF	lung
37	chr4:73919400-73924000	Weak transcription	Colonic Mucosa	Colon
38	chr4:73919400-73929200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:73919400-73929400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:73919400-73930600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:73919600-73931600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr4:73920000-73923000	Weak transcription	Lung	lung
43	chr4:73920000-73923400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:73920000-73928000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:73920200-73931400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:73920400-73928200	Strong transcription	HSMM	muscle
47	chr4:73920400-73929600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr4:73920400-73930800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:73920600-73926200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr4:73920600-73928000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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