Variant report

Variant	rs4662698
Chromosome Location	chr2:127730100-127730101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127728843..127730664-chr2:127736005..127737630,2	MCF-7	breast:
2	chr17:42421751..42423895-chr2:127728596..127731576,2	MCF-7	breast:
3	chr2:127285363..127286223-chr2:127729309..127730212,5	MCF-7	breast:
4	chr2:127729704..127730234-chr2:127807453..127808173,2	K562	blood:
5	chr2:127534693..127535651-chr2:127729199..127730146,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000030582	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10168813	0.84[ASN][1000 genomes]
rs10803617	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10803618	0.88[ASN][1000 genomes]
rs12053575	0.88[ASN][1000 genomes]
rs12620265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12692123	0.84[ASN][1000 genomes]
rs1553844	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1912498	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28758224	0.84[ASN][1000 genomes]
rs4662695	0.88[ASN][1000 genomes]
rs4662696	0.88[ASN][1000 genomes]
rs4662699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663070	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4663075	0.88[ASN][1000 genomes]
rs4663076	0.88[ASN][1000 genomes]
rs4663077	0.88[ASN][1000 genomes]
rs4663079	0.88[ASN][1000 genomes]
rs4663080	0.88[ASN][1000 genomes]
rs4663081	0.88[ASN][1000 genomes]
rs4663082	0.88[ASN][1000 genomes]
rs4663083	0.88[ASN][1000 genomes]
rs55962144	0.91[ASN][1000 genomes]
rs61633215	0.94[ASN][1000 genomes]
rs6431201	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6431206	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431207	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431208	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431209	0.88[ASN][1000 genomes]
rs6431210	0.88[ASN][1000 genomes]
rs6431211	0.94[ASN][1000 genomes]
rs6431212	0.94[ASN][1000 genomes]
rs6732056	0.82[ASN][1000 genomes]
rs6736826	0.82[ASN][1000 genomes]
rs6749935	0.88[ASN][1000 genomes]
rs6753685	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72976756	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72980845	0.94[ASN][1000 genomes]
rs72980853	1.00[EUR][1000 genomes]
rs72980861	1.00[EUR][1000 genomes]
rs73952788	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73952789	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419804	0.88[ASN][1000 genomes]
rs7420039	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7423317	0.88[ASN][1000 genomes]
rs7424763	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7556956	0.88[ASN][1000 genomes]
rs7557069	0.88[ASN][1000 genomes]
rs7565248	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7590060	0.84[ASN][1000 genomes]
rs870468	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9967839	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127727800-127730600	Enhancers	Fetal Brain Male	brain
2	chr2:127728200-127730200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:127728200-127730200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:127728800-127730200	Active TSS	Brain Anterior Caudate	brain
5	chr2:127729000-127730200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:127729200-127730200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr2:127729400-127730200	Enhancers	Fetal Lung	lung
8	chr2:127729600-127730200	Bivalent Enhancer	Fetal Thymus	thymus
9	chr2:127729600-127730200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr2:127729600-127730400	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr2:127729600-127730400	Flanking Active TSS	HepG2	liver
12	chr2:127729800-127730200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr2:127729800-127730200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:127729800-127730200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr2:127729800-127730200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:127729800-127730200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:127729800-127730200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr2:127729800-127730200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:127729800-127730200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:127729800-127730200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
21	chr2:127729800-127730200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:127729800-127730200	Flanking Active TSS	Liver	Liver
23	chr2:127729800-127730200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr2:127729800-127730200	Enhancers	Brain Substantia Nigra	brain
25	chr2:127729800-127730200	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr2:127729800-127730200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr2:127729800-127730200	Enhancers	Psoas Muscle	Psoas
28	chr2:127729800-127730200	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr2:127729800-127730200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr2:127729800-127730400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr2:127729800-127730400	Bivalent Enhancer	Placenta	Placenta
32	chr2:127729800-127731000	Enhancers	Fetal Muscle Leg	muscle
33	chr2:127730000-127730200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:127730000-127730200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:127730000-127730200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr2:127730000-127730200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:127730000-127730200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr2:127730000-127730200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:127730000-127730200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:127730000-127730200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:127730000-127730200	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr2:127730000-127730200	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:127730000-127730200	Enhancers	Brain Hippocampus Middle	brain
44	chr2:127730000-127730200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:127730000-127730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:127730000-127730200	Active TSS	Colonic Mucosa	Colon
47	chr2:127730000-127730200	Flanking Active TSS	Fetal Brain Female	brain
48	chr2:127730000-127730200	Enhancers	Fetal Intestine Large	intestine
49	chr2:127730000-127730200	Enhancers	Fetal Intestine Small	intestine
50	chr2:127730000-127730200	Enhancers	Pancreas	Pancrea

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