Variant report

Variant	rs67141267
Chromosome Location	chr2:127729720-127729721
allele	A/C
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	chr2:126503200..126503743-chr2:127729269..127730019,3	MCF-7	breast:
5	chr2:127729704..127730234-chr2:127807453..127808173,2	K562	blood:
6	chr2:127643515..127644193-chr2:127729132..127729892,3	MCF-7	breast:
7	chr2:127534693..127535651-chr2:127729199..127730146,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000030582	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10803618	0.90[EUR][1000 genomes]
rs11885353	0.85[AFR][1000 genomes]
rs11888349	0.85[AFR][1000 genomes]
rs11889584	0.85[AFR][1000 genomes]
rs11889712	0.85[AFR][1000 genomes]
rs11898260	0.85[AFR][1000 genomes]
rs12053575	0.90[EUR][1000 genomes]
rs12993596	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12997058	0.85[AFR][1000 genomes]
rs12999613	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12999757	0.85[AFR][1000 genomes]
rs13010625	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13010652	0.85[AFR][1000 genomes]
rs13012357	0.85[AFR][1000 genomes]
rs13013476	0.85[AFR][1000 genomes]
rs13025747	0.85[AFR][1000 genomes]
rs13026367	0.85[AFR][1000 genomes]
rs13026415	0.85[AFR][1000 genomes]
rs13026430	0.85[AFR][1000 genomes]
rs13028314	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13031759	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13032401	0.85[AFR][1000 genomes]
rs13032403	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17014691	0.83[AFR][1000 genomes]
rs17014698	0.85[AFR][1000 genomes]
rs1848902	0.85[AFR][1000 genomes]
rs1848904	0.85[AFR][1000 genomes]
rs34018781	0.85[AFR][1000 genomes]
rs34167893	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34234549	0.85[AFR][1000 genomes]
rs34340556	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34358238	0.85[AFR][1000 genomes]
rs34643552	0.85[AFR][1000 genomes]
rs34840409	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34840927	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34859030	0.85[AFR][1000 genomes]
rs35002098	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35143983	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35311329	0.85[AFR][1000 genomes]
rs35523788	0.85[AFR][1000 genomes]
rs35580772	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35620035	0.85[AFR][1000 genomes]
rs35686520	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36076731	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4662695	0.87[EUR][1000 genomes]
rs4662696	0.87[EUR][1000 genomes]
rs4662697	0.83[EUR][1000 genomes]
rs4663075	0.87[EUR][1000 genomes]
rs4663076	0.87[EUR][1000 genomes]
rs4663077	0.87[EUR][1000 genomes]
rs4663079	0.87[EUR][1000 genomes]
rs4663080	0.87[EUR][1000 genomes]
rs4663081	0.87[EUR][1000 genomes]
rs4663082	0.90[EUR][1000 genomes]
rs4663083	0.90[EUR][1000 genomes]
rs55962144	0.92[EUR][1000 genomes]
rs56086835	0.86[EUR][1000 genomes]
rs60133364	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60292917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6431209	0.90[EUR][1000 genomes]
rs6431210	0.90[EUR][1000 genomes]
rs6431211	0.90[EUR][1000 genomes]
rs6431212	0.90[EUR][1000 genomes]
rs66792832	0.83[AFR][1000 genomes]
rs6749935	0.87[EUR][1000 genomes]
rs67640318	0.85[AFR][1000 genomes]
rs7419804	0.90[EUR][1000 genomes]
rs7423317	0.90[EUR][1000 genomes]
rs7556956	0.90[EUR][1000 genomes]
rs7557069	0.90[EUR][1000 genomes]
rs9967839	0.90[EUR][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:104 , 50 per page) page: 1 2 3

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	chr2:127728800-127729800	Active TSS	Brain Angular Gyrus	brain
5	chr2:127728800-127729800	Active TSS	Brain Cingulate Gyrus	brain
6	chr2:127728800-127730000	Enhancers	Lung	lung
7	chr2:127728800-127730000	Enhancers	Spleen	Spleen
8	chr2:127728800-127730200	Active TSS	Brain Anterior Caudate	brain
9	chr2:127729000-127729800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:127729000-127729800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
11	chr2:127729000-127729800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:127729000-127729800	Active TSS	Aorta	Aorta
13	chr2:127729000-127729800	Active TSS	Pancreas	Pancrea
14	chr2:127729000-127729800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:127729000-127729800	Active TSS	K562	blood
16	chr2:127729000-127730000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
17	chr2:127729000-127730000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:127729000-127730000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:127729000-127730000	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr2:127729000-127730200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:127729200-127729800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:127729200-127729800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:127729200-127729800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:127729200-127729800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
25	chr2:127729200-127729800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr2:127729200-127729800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:127729200-127729800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
28	chr2:127729200-127729800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:127729200-127729800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr2:127729200-127729800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr2:127729200-127729800	Active TSS	Esophagus	oesophagus
32	chr2:127729200-127729800	Flanking Bivalent TSS/Enh	Placenta	Placenta
33	chr2:127729200-127729800	Flanking Active TSS	Ovary	ovary
34	chr2:127729200-127729800	Active TSS	Psoas Muscle	Psoas
35	chr2:127729200-127729800	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:127729200-127729800	Active TSS	Right Atrium	heart
37	chr2:127729200-127729800	Active TSS	Right Ventricle	heart
38	chr2:127729200-127729800	Active TSS	HSMMtube	muscle
39	chr2:127729200-127729800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr2:127729200-127730000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:127729200-127730000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr2:127729200-127730000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:127729200-127730000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:127729200-127730000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:127729200-127730000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:127729200-127730000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:127729200-127730000	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr2:127729200-127730000	Bivalent/Poised TSS	Osteobl	bone
49	chr2:127729200-127730200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
50	chr2:127729400-127729800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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