Variant report

Variant	rs59364009
Chromosome Location	chr2:39062633-39062634
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:39060039..39062647-chr2:39091366..39093415,2	K562	blood:
2	chr2:38977021..38979660-chr2:39061290..39063577,2	MCF-7	breast:
3	chr2:39053503..39057037-chr2:39058758..39062643,3	K562	blood:
4	chr2:38976012..38980044-chr2:39061508..39063677,4	K562	blood:
5	chr2:39053503..39055563-chr2:39060007..39062643,2	K562	blood:
6	chr2:38971264..38974244-chr2:39062067..39063623,2	K562	blood:
7	chr2:39060938..39063167-chr2:39068142..39070499,2	K562	blood:
8	chr2:38976925..38979917-chr2:39060411..39063401,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11888905	1.00[AMR][1000 genomes]
rs11892292	1.00[AMR][1000 genomes]
rs11894209	1.00[AMR][1000 genomes]
rs11899756	1.00[AMR][1000 genomes]
rs4592827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55809581	1.00[AMR][1000 genomes]
rs56239346	1.00[AMR][1000 genomes]
rs56407729	1.00[AMR][1000 genomes]
rs58080550	1.00[AMR][1000 genomes]
rs58449189	1.00[AMR][1000 genomes]
rs59983786	1.00[AMR][1000 genomes]
rs60895887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61139307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61556896	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6708518	1.00[AMR][1000 genomes]
rs6724203	1.00[AMR][1000 genomes]
rs6756998	1.00[AMR][1000 genomes]
rs73930361	1.00[AMR][1000 genomes]
rs73930365	1.00[AMR][1000 genomes]
rs73930366	1.00[AMR][1000 genomes]
rs73930371	1.00[AMR][1000 genomes]
rs73930376	1.00[AMR][1000 genomes]
rs73930385	1.00[AMR][1000 genomes]
rs73930386	1.00[AMR][1000 genomes]
rs73930394	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39006400-39085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:39022000-39066800	Weak transcription	Stomach Mucosa	stomach
3	chr2:39026600-39079800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:39030600-39088200	Weak transcription	Fetal Heart	heart
5	chr2:39032800-39072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:39038800-39095600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:39038800-39102200	Weak transcription	Gastric	stomach
8	chr2:39039000-39085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:39039000-39090000	Weak transcription	Esophagus	oesophagus
10	chr2:39039000-39101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:39039000-39102000	Weak transcription	Colonic Mucosa	Colon
12	chr2:39040000-39069000	Strong transcription	Fetal Muscle Leg	muscle
13	chr2:39042800-39063000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:39042800-39080600	Weak transcription	Small Intestine	intestine
15	chr2:39043600-39079800	Weak transcription	Right Ventricle	heart
16	chr2:39046000-39073200	Weak transcription	Pancreas	Pancrea
17	chr2:39046200-39070200	Weak transcription	NHLF	lung
18	chr2:39050400-39062800	Weak transcription	Thymus	Thymus
19	chr2:39050400-39063800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:39050400-39072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:39050400-39079800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:39050400-39079800	Weak transcription	Spleen	Spleen
23	chr2:39050400-39088000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:39051000-39068600	Weak transcription	HMEC	breast
25	chr2:39052200-39068600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:39053200-39068600	Weak transcription	Brain Substantia Nigra	brain
27	chr2:39053200-39069600	Weak transcription	HUVEC	blood vessel
28	chr2:39053800-39062800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:39053800-39063000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:39053800-39063800	Weak transcription	Liver	Liver
31	chr2:39053800-39064600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:39053800-39068200	Weak transcription	HSMM	muscle
33	chr2:39053800-39068400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:39053800-39068600	Weak transcription	Aorta	Aorta
35	chr2:39053800-39068800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:39053800-39080200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:39053800-39080600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:39054000-39062800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:39054000-39062800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:39054000-39064000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:39054000-39064000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:39054000-39064600	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:39054000-39064800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:39054200-39063600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:39054200-39064000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:39054200-39064000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:39054200-39076400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:39054400-39062800	Weak transcription	Ovary	ovary
49	chr2:39054400-39063400	Weak transcription	Placenta	Placenta
50	chr2:39055000-39080000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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