Variant report

Variant	rs59089077
Chromosome Location	chr2:152116966-152116967
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152114685..152117760-chr2:152145226..152147705,4	K562	blood:
2	chr2:150442857..150445501-chr2:152115437..152118070,2	MCF-7	breast:
3	chr2:152115426..152120009-chr2:152142898..152146726,5	K562	blood:
4	chr2:152116678..152120470-chr2:152265032..152268454,8	MCF-7	breast:
5	chr2:152116022..152119511-chr2:152263980..152267786,5	K562	blood:
6	chr2:152114819..152117297-chr2:152137988..152139768,2	K562	blood:
7	chr2:152110500..152112739-chr2:152114755..152117569,2	K562	blood:
8	chr2:152116868..152120610-chr2:152144685..152147660,4	MCF-7	breast:
9	chr2:152112196..152114253-chr2:152116352..152117895,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123609	Chromatin interaction
ENSG00000080345	Chromatin interaction
ENSG00000231969	Chromatin interaction
ENSG00000168288	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10173695	1.00[AMR][1000 genomes]
rs10179626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180428	1.00[AMR][1000 genomes]
rs10190464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191465	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201647	1.00[AMR][1000 genomes]
rs10202368	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10203338	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10210009	1.00[AMR][1000 genomes]
rs12328054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13383657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385932	1.00[AMR][1000 genomes]
rs13387765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389056	1.00[AMR][1000 genomes]
rs13389461	1.00[AMR][1000 genomes]
rs13390792	1.00[AMR][1000 genomes]
rs13394505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395395	1.00[AMR][1000 genomes]
rs13395749	1.00[AMR][1000 genomes]
rs13399299	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412493	1.00[AMR][1000 genomes]
rs13412781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417120	1.00[AMR][1000 genomes]
rs13418019	1.00[AMR][1000 genomes]
rs13418799	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13423692	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2303341	1.00[AMR][1000 genomes]
rs28445248	1.00[AMR][1000 genomes]
rs28493579	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28529741	1.00[AMR][1000 genomes]
rs3771899	1.00[AMR][1000 genomes]
rs56801020	1.00[AMR][1000 genomes]
rs59356545	1.00[AMR][1000 genomes]
rs6719796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6724871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9989812	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152094400-152117000	Weak transcription	A549	lung
2	chr2:152101600-152117200	Weak transcription	Fetal Kidney	kidney
3	chr2:152103400-152117600	Weak transcription	Gastric	stomach
4	chr2:152103800-152117600	Weak transcription	Esophagus	oesophagus
5	chr2:152104400-152117200	Weak transcription	Colonic Mucosa	Colon
6	chr2:152104600-152117200	Weak transcription	Stomach Mucosa	stomach
7	chr2:152105800-152117200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:152105800-152117200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:152106400-152117200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:152106400-152117200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:152106400-152117600	Weak transcription	Left Ventricle	heart
12	chr2:152106600-152117000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:152106600-152117000	Weak transcription	Brain Anterior Caudate	brain
14	chr2:152106600-152117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:152106600-152117200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:152106600-152117200	Weak transcription	Fetal Intestine Large	intestine
17	chr2:152106600-152117400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:152106800-152117000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:152107600-152117000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:152108000-152117000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:152108000-152117200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:152108000-152117200	Weak transcription	HSMM	muscle
23	chr2:152108200-152117000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:152108200-152117000	Weak transcription	NHDF-Ad	bronchial
25	chr2:152108400-152117000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:152108400-152117000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:152108400-152117200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:152108600-152117000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:152109000-152117000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:152109000-152117200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:152109200-152117200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:152109400-152117000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:152109800-152117000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:152109800-152117600	Weak transcription	Spleen	Spleen
35	chr2:152110400-152117200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:152110400-152117600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:152110400-152117600	Weak transcription	Lung	lung
38	chr2:152110600-152117200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:152110800-152117200	Weak transcription	Right Ventricle	heart
40	chr2:152111200-152117000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:152111400-152117200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:152111400-152117200	Weak transcription	Aorta	Aorta
43	chr2:152111400-152117400	Weak transcription	Fetal Thymus	thymus
44	chr2:152111600-152117000	Weak transcription	Primary B cells from cord blood	blood
45	chr2:152111600-152117200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:152112000-152117000	Weak transcription	Fetal Stomach	stomach
47	chr2:152112000-152117200	Weak transcription	Fetal Intestine Small	intestine
48	chr2:152112400-152117200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:152113800-152117200	Weak transcription	Ovary	ovary
50	chr2:152113800-152117400	Weak transcription	Psoas Muscle	Psoas

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