Variant report

Variant	rs2085128
Chromosome Location	chr2:234373870-234373871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234372522..234374797-chr2:234385082..234387543,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1048603	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11681604	0.81[ASN][1000 genomes]
rs2242098	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290464	0.97[ASN][1000 genomes]
rs2602386	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28562308	0.99[ASN][1000 genomes]
rs2879871	0.96[ASN][1000 genomes]
rs2971855	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2971856	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4663699	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6431435	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs838546	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs838547	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs838554	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2085128	DGKD	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
2	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
3	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
9	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:234350200-234377600	Strong transcription	Left Ventricle	heart
13	chr2:234350400-234374400	Strong transcription	Fetal Intestine Large	intestine
14	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:234352600-234380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:234352600-234380800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:234353000-234378000	Strong transcription	Rectal Smooth Muscle	rectum
25	chr2:234353400-234379600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:234353400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:234353600-234381800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:234353800-234378000	Strong transcription	Fetal Stomach	stomach
29	chr2:234354000-234377800	Weak transcription	Fetal Heart	heart
30	chr2:234354000-234381600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:234355000-234377800	Strong transcription	Adipose Nuclei	Adipose
32	chr2:234356400-234374200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:234357600-234382000	Strong transcription	Liver	Liver
34	chr2:234358000-234374200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:234358200-234378400	Strong transcription	Fetal Intestine Small	intestine
36	chr2:234358200-234379000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:234358200-234379400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:234361200-234389800	Weak transcription	Fetal Kidney	kidney
39	chr2:234361400-234378200	Weak transcription	K562	blood
40	chr2:234362400-234384600	Strong transcription	Spleen	Spleen
41	chr2:234362600-234379600	Strong transcription	HSMMtube	muscle
42	chr2:234363000-234378000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:234363400-234378000	Strong transcription	Ovary	ovary
44	chr2:234363600-234379800	Weak transcription	HMEC	breast
45	chr2:234363800-234390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:234364400-234377400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:234365800-234393600	Weak transcription	Hela-S3	cervix
49	chr2:234369200-234378200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:234369200-234381400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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