Variant report

Variant	rs72717013
Chromosome Location	chr1:161443372-161443373
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161441922..161445226-chr1:161466780..161470505,3	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10494359	1.00[ASN][1000 genomes]
rs10494360	1.00[ASN][1000 genomes]
rs11801022	1.00[ASN][1000 genomes]
rs11810143	1.00[ASN][1000 genomes]
rs12722986	1.00[ASN][1000 genomes]
rs12741391	1.00[ASN][1000 genomes]
rs12744234	1.00[ASN][1000 genomes]
rs12746613	1.00[ASN][1000 genomes]
rs12748656	1.00[ASN][1000 genomes]
rs12749237	1.00[ASN][1000 genomes]
rs12758795	1.00[ASN][1000 genomes]
rs17394957	1.00[ASN][1000 genomes]
rs17395595	1.00[ASN][1000 genomes]
rs17398689	1.00[ASN][1000 genomes]
rs17399583	1.00[ASN][1000 genomes]
rs17400053	1.00[ASN][1000 genomes]
rs17400517	1.00[ASN][1000 genomes]
rs34006306	1.00[ASN][1000 genomes]
rs34370781	1.00[ASN][1000 genomes]
rs34550741	1.00[ASN][1000 genomes]
rs35046931	1.00[ASN][1000 genomes]
rs35200803	1.00[ASN][1000 genomes]
rs35620439	1.00[ASN][1000 genomes]
rs35825219	1.00[ASN][1000 genomes]
rs35949692	1.00[ASN][1000 genomes]
rs36059328	1.00[ASN][1000 genomes]
rs3845548	1.00[ASN][1000 genomes]
rs4082014	1.00[ASN][1000 genomes]
rs4657086	1.00[ASN][1000 genomes]
rs55864322	1.00[ASN][1000 genomes]
rs55971447	1.00[ASN][1000 genomes]
rs56157533	1.00[ASN][1000 genomes]
rs56199187	1.00[ASN][1000 genomes]
rs61686728	1.00[ASN][1000 genomes]
rs61801010	1.00[AFR][1000 genomes]
rs61802846	1.00[ASN][1000 genomes]
rs66579967	1.00[ASN][1000 genomes]
rs6666989	1.00[ASN][1000 genomes]
rs6671753	1.00[ASN][1000 genomes]
rs6679543	1.00[ASN][1000 genomes]
rs66888136	1.00[ASN][1000 genomes]
rs67307769	1.00[ASN][1000 genomes]
rs67418890	1.00[ASN][1000 genomes]
rs71632979	1.00[ASN][1000 genomes]
rs71632995	1.00[ASN][1000 genomes]
rs71639056	1.00[ASN][1000 genomes]
rs71639062	1.00[ASN][1000 genomes]
rs72714962	1.00[ASN][1000 genomes]
rs72717016	1.00[ASN][1000 genomes]
rs72717018	1.00[ASN][1000 genomes]
rs72717040	1.00[ASN][1000 genomes]
rs72717048	1.00[ASN][1000 genomes]
rs7515174	1.00[ASN][1000 genomes]
rs7518087	1.00[ASN][1000 genomes]
rs7529225	1.00[ASN][1000 genomes]
rs7529425	1.00[ASN][1000 genomes]
rs7532275	1.00[ASN][1000 genomes]
rs7539468	1.00[ASN][1000 genomes]
rs7552317	1.00[ASN][1000 genomes]
rs867624	1.00[ASN][1000 genomes]
rs9427039	1.00[ASN][1000 genomes]
rs9427059	1.00[ASN][1000 genomes]
rs9427065	1.00[ASN][1000 genomes]
rs9427372	1.00[ASN][1000 genomes]
rs9427387	1.00[ASN][1000 genomes]
rs9427388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9427392	1.00[ASN][1000 genomes]
rs9427394	1.00[ASN][1000 genomes]
rs9427398	1.00[ASN][1000 genomes]
rs9427399	1.00[ASN][1000 genomes]
rs9427400	1.00[ASN][1000 genomes]
rs9427401	1.00[ASN][1000 genomes]
rs9427402	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
9	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
10	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
11	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv433053	chr1:161389417-161673682	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv3243	chr1:161391435-161476893	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv433075	chr1:161395555-161673682	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv831725	chr1:161403030-161666732	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	esv2757757	chr1:161406313-161624427	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv820819	chr1:161408548-161451156	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3451840	chr1:161409428-161443526	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv3344166	chr1:161409528-161443526	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3359978	chr1:161409528-161443526	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3424752	chr1:161409628-161443526	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv825165	chr1:161409633-161451156	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv3435547	chr1:161409828-161443526	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv3383739	chr1:161409928-161443526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv1821964	chr1:161410458-161642332	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
27	nsv8491	chr1:161410479-161452256	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	esv18665	chr1:161411989-161544650	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
29	esv1812323	chr1:161413114-161624425	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
30	esv1814016	chr1:161413114-161624425	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
31	nsv427841	chr1:161413114-161624425	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
32	nsv831736	chr1:161413123-161624424	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
33	nsv514914	chr1:161413392-161451344	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv1824713	chr1:161414555-161642332	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
35	esv1821631	chr1:161414640-161644896	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72717013	FCGR2C	cis	Muscle Skeletal	GTEx
rs72717013	FCGR2C	cis	Heart Left Ventricle	GTEx
rs72717013	HSPA7	cis	Muscle Skeletal	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161442000-161443400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:161442200-161443400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:161442200-161443400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr1:161442200-161443800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:161442200-161444200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:161442400-161443400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:161442400-161443400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:161442400-161443400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:161442400-161443400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:161442400-161443400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:161442400-161443600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:161442600-161443400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:161442600-161443400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:161442600-161443400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:161442600-161443400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:161442600-161443400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:161442600-161443400	Enhancers	GM12878-XiMat	blood
18	chr1:161442600-161443600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr1:161442600-161443600	Flanking Active TSS	Hela-S3	cervix
20	chr1:161442800-161443400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr1:161442800-161443400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:161442800-161443400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr1:161442800-161443400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr1:161442800-161443400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
25	chr1:161442800-161443400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:161442800-161443400	Enhancers	K562	blood
27	chr1:161443000-161443400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:161443000-161443400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr1:161443000-161443400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr1:161443000-161443400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
31	chr1:161443000-161443400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:161443000-161443400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:161443000-161443400	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr1:161443000-161443400	Bivalent Enhancer	Placenta	Placenta
35	chr1:161443000-161443400	Bivalent/Poised TSS	Osteobl	bone
36	chr1:161443000-161443600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr1:161443000-161443800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr1:161443200-161443400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:161443200-161443400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:161443200-161443400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:161443200-161443400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:161443200-161443400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
43	chr1:161443200-161443400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:161443200-161443400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:161443200-161443400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
46	chr1:161443200-161443400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
47	chr1:161443200-161443400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr1:161443200-161443400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
49	chr1:161443200-161443400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr1:161443200-161443400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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