Variant report

Variant	rs59658398
Chromosome Location	chr1:161391968-161391969
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161391094..161394225-chr1:161406445..161410510,3	K562	blood:
2	chr1:161368220..161370476-chr1:161391419..161393539,2	K562	blood:
3	chr1:161390100..161392594-chr1:161405039..161407945,2	K562	blood:
4	chr1:161391115..161393084-chr1:161396926..161398763,2	MCF-7	breast:
5	chr1:161381183..161383372-chr1:161391779..161394555,3	K562	blood:
6	chr1:161391834..161393520-chr1:161394976..161397393,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10157049	1.00[ASN][1000 genomes]
rs10157279	0.80[ASN][1000 genomes]
rs11265601	1.00[ASN][1000 genomes]
rs35327240	1.00[ASN][1000 genomes]
rs35656071	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	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
4	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv998957	chr1:161353351-161398414	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161378200-161395400	Weak transcription	Pancreas	Pancrea
2	chr1:161389600-161394800	Weak transcription	Ovary	ovary
3	chr1:161390400-161392000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:161390400-161392200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:161390400-161392200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr1:161390400-161392200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:161390400-161392200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:161390400-161392200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:161390600-161392200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:161390600-161392200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:161390600-161392200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:161390600-161392200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:161390600-161392800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:161390800-161392200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:161390800-161392200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:161390800-161392200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:161390800-161392200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:161391000-161392200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:161391000-161392200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:161391000-161392400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:161391200-161392200	Bivalent Enhancer	Placenta	Placenta
22	chr1:161391200-161392200	Active TSS	Right Ventricle	heart
23	chr1:161391400-161392000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:161391400-161392000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:161391400-161392200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:161391400-161392200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr1:161391400-161392200	Active TSS	Thymus	Thymus
28	chr1:161391400-161392400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:161391600-161392000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr1:161391600-161392000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr1:161391600-161392000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr1:161391600-161392000	Bivalent/Poised TSS	Fetal Brain Male	brain
33	chr1:161391600-161392000	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr1:161391600-161392000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr1:161391600-161392000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr1:161391600-161392200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:161391600-161392200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:161391600-161392200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:161391600-161392200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:161391600-161392200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:161391600-161392200	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
42	chr1:161391600-161392200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:161391600-161392200	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:161391600-161392200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:161391600-161392200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr1:161391600-161392200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:161391600-161392200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:161391600-161392200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:161391600-161392200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:161391600-161392200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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