Variant report

Variant	rs10192729
Chromosome Location	chr2:86595512-86595513
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86525475..86526402-chr2:86594830..86595950,4	MCF-7	breast:
2	chr17:79194432..79194952-chr2:86595492..86596036,3	K562	blood:
3	chr2:86448891..86450074-chr2:86594892..86595864,3	MCF-7	breast:
4	chr2:86446503..86449677-chr2:86593387..86596210,3	MCF-7	breast:
5	chr2:86447923..86448691-chr2:86595098..86596037,5	MCF-7	breast:
6	chr2:86420778..86424048-chr2:86595325..86598515,3	MCF-7	breast:
7	chr2:86525581..86526450-chr2:86595097..86596076,7	MCF-7	breast:
8	chr2:86448013..86448886-chr2:86595182..86595832,4	MCF-7	breast:
9	chr2:86572451..86574129-chr2:86595066..86597224,2	K562	blood:
10	chr2:86594067..86596122-chr2:86600316..86602892,2	MCF-7	breast:
11	chr2:86447946..86448869-chr2:86595119..86595787,5	K562	blood:
12	chr2:86593659..86596612-chr2:86598158..86600807,3	K562	blood:
13	chr2:86588403..86590513-chr2:86593464..86596116,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132305	Chromatin interaction
ENSG00000273080	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10179968	0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10496321	1.00[AMR][1000 genomes]
rs13394211	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13427212	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1607448	1.00[AMR][1000 genomes]
rs17027161	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55645731	1.00[AMR][1000 genomes]
rs56301854	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58382371	1.00[AMR][1000 genomes]
rs59520922	1.00[AMR][1000 genomes]
rs60391171	1.00[AMR][1000 genomes]
rs6721311	0.83[AMR][1000 genomes]
rs73945284	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73945285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73945286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73945298	1.00[AMR][1000 genomes]
rs73945300	1.00[AMR][1000 genomes]
rs73946205	1.00[AMR][1000 genomes]
rs73946210	1.00[AMR][1000 genomes]
rs73946213	1.00[AMR][1000 genomes]
rs73946224	1.00[AMR][1000 genomes]
rs73949508	1.00[AMR][1000 genomes]
rs73949836	1.00[AMR][1000 genomes]
rs73949841	1.00[AMR][1000 genomes]
rs7600275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7609052	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86593000-86596000	Enhancers	Fetal Intestine Small	intestine
2	chr2:86593400-86596000	Enhancers	Fetal Intestine Large	intestine
3	chr2:86593400-86596000	Enhancers	Pancreas	Pancrea
4	chr2:86594000-86596000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:86594000-86596000	Enhancers	Right Ventricle	heart
6	chr2:86594200-86595600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:86594200-86596000	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:86594200-86596000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:86594200-86596000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:86594400-86596200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:86594600-86596000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:86594800-86595600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:86594800-86595600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:86594800-86596000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:86594800-86596000	Enhancers	Stomach Mucosa	stomach
16	chr2:86595000-86595600	Enhancers	Gastric	stomach
17	chr2:86595000-86595800	Enhancers	Adipose Nuclei	Adipose
18	chr2:86595000-86596000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:86595000-86596000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr2:86595000-86596200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:86595000-86596200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:86595000-86596600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:86595200-86595600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:86595200-86595600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:86595200-86595600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:86595200-86595600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:86595200-86595600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:86595200-86595600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:86595200-86595600	Flanking Active TSS	Liver	Liver
30	chr2:86595200-86595600	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr2:86595200-86595600	Enhancers	HMEC	breast
32	chr2:86595200-86595600	Enhancers	HUVEC	blood vessel
33	chr2:86595200-86595800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:86595200-86595800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:86595200-86596000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr2:86595200-86596000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:86595200-86596000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:86595200-86596000	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:86595200-86596000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:86595200-86596000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:86595200-86596000	Enhancers	Fetal Heart	heart
42	chr2:86595200-86596000	Enhancers	Fetal Lung	lung
43	chr2:86595200-86596000	Enhancers	Fetal Thymus	thymus
44	chr2:86595200-86596000	Active TSS	Rectal Smooth Muscle	rectum
45	chr2:86595200-86596000	Enhancers	A549	lung
46	chr2:86595200-86596000	Flanking Active TSS	Hela-S3	cervix
47	chr2:86595200-86596000	Flanking Active TSS	HSMM	muscle
48	chr2:86595200-86596200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr2:86595400-86595600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:86595400-86595600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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