Variant report

Variant	rs764829
Chromosome Location	chr2:100908508-100908509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99952367..99954549-chr2:100906895..100909428,2	K562	blood:
2	chr2:100907987..100912107-chr2:100920120..100922978,3	MCF-7	breast:
3	chr2:100907128..100908845-chr2:101037649..101040314,2	MCF-7	breast:
4	chr2:100887822..100891668-chr2:100905183..100909067,4	MCF-7	breast:
5	chr2:100882860..100889379-chr2:100906197..100910186,11	MCF-7	breast:
6	chr2:100887980..100890347-chr2:100906577..100908691,2	K562	blood:
7	chr2:100907864..100908724-chr2:100937511..100938051,2	MCF-7	breast:
8	chr2:100906831..100909358-chr2:100926038..100929328,3	MCF-7	breast:
9	chr2:100889401..100893026-chr2:100904259..100909793,5	MCF-7	breast:
10	chr2:100900693..100917248-chr2:100932005..100942326,51	MCF-7	breast:
11	chr2:100906911..100909075-chr2:101026496..101029080,2	MCF-7	breast:
12	chr2:100908492..100909141-chr2:100938432..100939141,2	MCF-7	breast:
13	chr2:100895478..100897134-chr2:100908252..100910044,2	K562	blood:
14	chr2:100907851..100910506-chr2:101025959..101028918,2	MCF-7	breast:
15	chr2:100878643..100880888-chr2:100907492..100909514,2	K562	blood:
16	chr2:100879379..100882180-chr2:100906907..100909582,4	MCF-7	breast:
17	chr2:100906645..100910351-chr2:100915314..100919031,3	K562	blood:
18	chr2:100888847..100890677-chr2:100907191..100910178,2	K562	blood:
19	chr2:100907126..100910810-chr2:100936315..100940527,7	K562	blood:
20	chr2:100908367..100909141-chr2:100938432..100939300,4	MCF-7	breast:
21	chr2:100906230..100908790-chr2:100951574..100954485,3	MCF-7	breast:
22	chr2:100875966..100878799-chr2:100906876..100908974,2	MCF-7	breast:
23	chr2:100883299..100887347-chr2:100906337..100908618,4	MCF-7	breast:
24	chr2:100891457..100894388-chr2:100906302..100910364,4	K562	blood:
25	chr2:100906194..100910090-chr2:100935878..100940937,6	K562	blood:
26	chr2:100893081..100895089-chr2:100906389..100909363,2	MCF-7	breast:
27	chr2:100908082..100908744-chr2:100938685..100939223,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115514	Chromatin interaction
ENSG00000170500	Chromatin interaction
ENSG00000158417	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2309814	0.80[CEU][hapmap];1.00[MEX][hapmap]
rs4850932	0.80[CEU][hapmap]
rs4851314	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100892200-100909800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:100898400-100915600	Weak transcription	Right Atrium	heart
3	chr2:100898800-100915000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:100900200-100919000	Strong transcription	Fetal Brain Female	brain
5	chr2:100900800-100926600	Weak transcription	Right Ventricle	heart
6	chr2:100901000-100937000	Weak transcription	Fetal Brain Male	brain
7	chr2:100903200-100918000	Weak transcription	Liver	Liver
8	chr2:100903400-100909400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:100903400-100930800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:100903600-100914400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:100903600-100926200	Weak transcription	Fetal Kidney	kidney
12	chr2:100906400-100909200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:100906600-100911400	Strong transcription	Brain Germinal Matrix	brain
14	chr2:100906800-100908600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:100906800-100908600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:100906800-100909000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:100906800-100909000	Enhancers	Fetal Thymus	thymus
18	chr2:100906800-100909200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:100906800-100910000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:100906800-100910600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:100906800-100910600	Enhancers	Placenta	Placenta
22	chr2:100907000-100908600	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:100907000-100908600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:100907000-100908800	Enhancers	Pancreas	Pancrea
25	chr2:100907000-100909000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:100907000-100909000	Enhancers	Ovary	ovary
27	chr2:100907000-100909000	Enhancers	Stomach Mucosa	stomach
28	chr2:100907000-100909200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:100907000-100909200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:100907000-100909400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:100907000-100909600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:100907000-100909800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:100907000-100909800	Enhancers	Osteobl	bone
34	chr2:100907000-100910000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:100907000-100912000	Weak transcription	Aorta	Aorta
36	chr2:100907200-100909000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:100907200-100909000	Enhancers	Fetal Intestine Large	intestine
38	chr2:100907200-100909000	Enhancers	Fetal Intestine Small	intestine
39	chr2:100907200-100909200	Enhancers	HMEC	breast
40	chr2:100907200-100909400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:100907200-100909400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:100907200-100909600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:100907200-100909800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:100907200-100909800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:100907400-100908600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:100907400-100908600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:100907400-100908800	Flanking Active TSS	K562	blood
48	chr2:100907400-100909000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:100907400-100909000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:100907400-100909000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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