Variant report

Variant	rs17037201
Chromosome Location	chr4:159086166-159086167
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	chr4:159035966..159038109-chr4:159085768..159087308,2	MCF-7	breast:
2	chr4:159083843..159086594-chr4:159090797..159093216,2	K562	blood:

Variant related genes	Relation type
ENSG00000164125	Chromatin interaction
ENSG00000248429	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10021199	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10517685	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10517686	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11100152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11933839	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11939690	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036992	0.90[EUR][1000 genomes]
rs17036995	0.90[EUR][1000 genomes]
rs17037232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17212066	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17212714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17271385	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17279270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2725492	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs2881374	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4234916	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs4508943	1.00[CHB][hapmap]
rs4510503	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4549446	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs6536289	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs6536290	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs6820988	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs6834839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72691615	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691620	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691622	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691626	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691627	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691629	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691631	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691632	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691633	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691634	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691636	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691649	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72695726	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72695736	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72695741	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695744	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695745	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695747	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695748	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695749	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695750	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695751	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72695753	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7678302	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997618	0.90[CEU][hapmap];1.00[CHB][hapmap]

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	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17037201	FAM198B	cis	Whole Blood	GTEx
rs17037201	FLJ11155	cis	multi-tissue	Pritchard
rs17037201	RP11-597D13.9	cis	Esophagus Muscularis	GTEx
rs17037201	DKFZp434L142	cis	multi-tissue	Pritchard
rs17037201	TMEM144	cis	Esophagus Muscularis	GTEx
rs17037201	LOC646890	cis	multi-tissue	Pritchard

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159076800-159089800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:159078400-159089000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:159078600-159094000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:159083000-159086800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:159083000-159091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:159083200-159087200	Weak transcription	Fetal Intestine Small	intestine
7	chr4:159083200-159089800	Weak transcription	Fetal Kidney	kidney
8	chr4:159083400-159089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:159083400-159090400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:159083600-159086200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:159083600-159087000	Genic enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:159083800-159086200	Genic enhancers	Monocytes-CD14+_RO01746	blood
13	chr4:159084000-159086600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:159084000-159089800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:159084200-159088600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:159084200-159089200	Weak transcription	Osteobl	bone
17	chr4:159084200-159089800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:159084200-159090000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:159084200-159090800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:159085000-159087200	Enhancers	Fetal Stomach	stomach
21	chr4:159085000-159088600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:159085000-159095200	Active TSS	Aorta	Aorta
23	chr4:159085200-159086200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:159085200-159086200	Enhancers	Brain Anterior Caudate	brain
25	chr4:159085200-159086600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr4:159085200-159086600	Flanking Active TSS	HMEC	breast
27	chr4:159085200-159086800	Genic enhancers	HSMMtube	muscle
28	chr4:159085200-159087400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:159085200-159089400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:159085200-159094000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr4:159085400-159086200	Active TSS	Left Ventricle	heart
32	chr4:159085400-159087400	Enhancers	Brain Hippocampus Middle	brain
33	chr4:159085400-159090800	Active TSS	Stomach Smooth Muscle	stomach
34	chr4:159085400-159095000	Active TSS	Right Atrium	heart
35	chr4:159085600-159086200	Active TSS	Rectal Smooth Muscle	rectum
36	chr4:159085600-159086400	Active TSS	Right Ventricle	heart
37	chr4:159085600-159087200	Active TSS	Ovary	ovary
38	chr4:159085600-159087400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr4:159085600-159088400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:159085600-159095000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:159085800-159086200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr4:159085800-159086200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:159085800-159086200	Enhancers	NH-A	brain
44	chr4:159085800-159086400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:159085800-159086400	Active TSS	Colon Smooth Muscle	Colon
46	chr4:159085800-159086400	Active TSS	Psoas Muscle	Psoas
47	chr4:159085800-159086400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr4:159085800-159086400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr4:159085800-159086600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:159085800-159086600	Enhancers	Brain Angular Gyrus	brain

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