Variant report

Variant	rs3769731
Chromosome Location	chr2:99101134-99101135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99099658..99103301-chr2:99221039..99225394,4	MCF-7	breast:
2	chr2:99098848..99102252-chr2:99105499..99109445,4	MCF-7	breast:
3	chr2:99100442..99102392-chr2:99104726..99106993,2	K562	blood:
4	chr2:99097127..99101392-chr2:99116860..99119795,3	MCF-7	breast:
5	chr2:99061518..99063442-chr2:99098258..99101170,2	MCF-7	breast:
6	chr2:99099626..99101575-chr2:99110514..99112493,2	MCF-7	breast:
7	chr2:99094929..99096492-chr2:99099848..99102638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13395005	1.00[ASN][1000 genomes]
rs13429817	1.00[ASN][1000 genomes]
rs17030716	1.00[ASN][1000 genomes]
rs2271041	0.85[ASN][1000 genomes]
rs3171842	1.00[ASN][1000 genomes]
rs3731655	1.00[ASN][1000 genomes]
rs3769704	0.87[ASN][1000 genomes]
rs3769720	1.00[ASN][1000 genomes]
rs3769722	1.00[ASN][1000 genomes]
rs3769732	1.00[ASN][1000 genomes]
rs3769742	1.00[ASN][1000 genomes]
rs3820944	1.00[ASN][1000 genomes]
rs41460047	1.00[ASN][1000 genomes]
rs7602422	0.80[ASN][1000 genomes]
rs9631039	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
2	chr2:99090600-99107200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:99090800-99108000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:99092000-99101200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:99092800-99101800	Enhancers	Left Ventricle	heart
6	chr2:99092800-99103400	Enhancers	Lung	lung
7	chr2:99094000-99107000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:99094200-99101600	Enhancers	Placenta	Placenta
9	chr2:99094800-99103400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:99095000-99107200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:99095200-99101200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:99096000-99106600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:99096400-99101600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:99096600-99101200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:99096800-99101200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:99096800-99101800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:99096800-99103000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:99096800-99113600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:99097000-99103000	Weak transcription	Osteobl	bone
20	chr2:99097200-99101800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:99097200-99106800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:99097400-99102000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:99097400-99102400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:99097400-99104200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:99097400-99106800	Weak transcription	Fetal Stomach	stomach
26	chr2:99097400-99110400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:99097600-99101400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:99097600-99101600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:99097600-99102000	Enhancers	Thymus	Thymus
30	chr2:99097600-99103000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:99097600-99104200	Weak transcription	Brain Substantia Nigra	brain
32	chr2:99097600-99104400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:99097800-99104200	Weak transcription	Adipose Nuclei	Adipose
34	chr2:99097800-99104800	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:99098000-99104200	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:99098000-99104600	Weak transcription	Psoas Muscle	Psoas
37	chr2:99098000-99106800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:99098200-99101600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:99098400-99102800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:99098400-99103600	Enhancers	Fetal Thymus	thymus
41	chr2:99098400-99115200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:99098800-99101600	Enhancers	Esophagus	oesophagus
43	chr2:99099000-99101200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:99099000-99101600	Enhancers	Gastric	stomach
45	chr2:99099000-99101600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr2:99099800-99101200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:99099800-99101800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:99099800-99103200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:99100000-99101600	Enhancers	Colonic Mucosa	Colon
50	chr2:99100000-99101600	Enhancers	Stomach Mucosa	stomach

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