Variant report

Variant	rs4446964
Chromosome Location	chr1:113305724-113305725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113303775..113306449-chr1:113308218..113310007,2	MCF-7	breast:
2	chr1:113299696..113301720-chr1:113304591..113306772,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11102526	0.81[ASN][1000 genomes]
rs11102531	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11580907	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12122855	0.81[ASN][1000 genomes]
rs12125967	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34178610	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4385708	0.86[ASN][1000 genomes]
rs4446965	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4590671	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4839260	0.81[ASN][1000 genomes]
rs55939069	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56043521	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56260920	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56353219	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58114055	0.86[ASN][1000 genomes]
rs61818214	0.95[ASN][1000 genomes]
rs6537755	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6537756	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6675379	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6699164	0.97[ASN][1000 genomes]
rs7530910	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	esv18511	chr1:113246318-113350775	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv998794	chr1:113246630-113310418	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	68 gene(s)	inside rSNPs	diseases
13	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
14	nsv999123	chr1:113297485-113352172	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv872160	chr1:113301657-113409751	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113304000-113306800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:113304000-113306800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:113304200-113306000	Flanking Active TSS	Dnd41	blood
4	chr1:113304200-113307000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:113304400-113306000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:113304600-113305800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:113304600-113306400	Enhancers	HSMMtube	muscle
8	chr1:113304600-113306600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:113304600-113306800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:113304600-113307000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:113304600-113307400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:113304800-113306000	Enhancers	HSMM	muscle
13	chr1:113304800-113306600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:113304800-113306600	Enhancers	Placenta	Placenta
15	chr1:113304800-113307000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:113305000-113305800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:113305000-113305800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:113305000-113305800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:113305000-113306000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:113305000-113306000	Enhancers	Osteobl	bone
21	chr1:113305000-113306400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:113305000-113306600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:113305000-113306600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:113305000-113306600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:113305000-113306600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:113305000-113306600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:113305000-113306600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:113305000-113306800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:113305000-113307400	Enhancers	HepG2	liver
30	chr1:113305200-113305800	Enhancers	Pancreas	Pancrea
31	chr1:113305200-113305800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:113305200-113305800	Flanking Active TSS	HMEC	breast
33	chr1:113305200-113306000	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:113305200-113306000	Enhancers	NH-A	brain
35	chr1:113305200-113306200	Flanking Active TSS	NHEK	skin
36	chr1:113305200-113306600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:113305200-113307000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:113305200-113307000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:113305400-113305800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:113305400-113306000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:113305400-113306200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:113305400-113306200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:113305400-113306600	Enhancers	Esophagus	oesophagus
44	chr1:113305600-113306000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:113305600-113306600	Weak transcription	Fetal Kidney	kidney
46	chr1:113305600-113306600	Enhancers	GM12878-XiMat	blood
47	chr1:113305600-113320000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:113305600-113332800	Weak transcription	H9 Cell Line	embryonic stem cell

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