Variant report

Variant	rs6718771
Chromosome Location	chr2:234365497-234365498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234365414-234365799	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:234365435-234367182	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234353979..234356379-chr2:234363891..234366424,2	MCF-7	breast:
2	chr2:234331430..234332983-chr2:234364187..234366642,2	MCF-7	breast:

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000077044	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13431913	1.00[MEX][hapmap]
rs73995975	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995978	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7602378	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
3	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
4	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
5	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:234344000-234366200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
12	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:234348000-234370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:234350200-234377600	Strong transcription	Left Ventricle	heart
17	chr2:234350400-234374400	Strong transcription	Fetal Intestine Large	intestine
18	chr2:234352000-234367400	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:234352400-234368800	Strong transcription	Colonic Mucosa	Colon
20	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:234352600-234368800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:234352600-234369000	Strong transcription	Brain Anterior Caudate	brain
24	chr2:234352600-234373600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:234352600-234380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:234352600-234380800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:234353000-234369000	Strong transcription	Brain Hippocampus Middle	brain
34	chr2:234353000-234378000	Strong transcription	Rectal Smooth Muscle	rectum
35	chr2:234353200-234369800	Strong transcription	Right Ventricle	heart
36	chr2:234353400-234368600	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:234353400-234373600	Strong transcription	Aorta	Aorta
38	chr2:234353400-234379600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:234353400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:234353600-234373800	Strong transcription	Dnd41	blood
41	chr2:234353600-234381800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr2:234353800-234372600	Strong transcription	Placenta	Placenta
43	chr2:234353800-234378000	Strong transcription	Fetal Stomach	stomach
44	chr2:234354000-234369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:234354000-234373800	Strong transcription	Fetal Brain Female	brain
46	chr2:234354000-234377800	Weak transcription	Fetal Heart	heart
47	chr2:234354000-234381600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:234354200-234373400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:234355000-234377800	Strong transcription	Adipose Nuclei	Adipose
50	chr2:234356400-234366400	Strong transcription	GM12878-XiMat	blood

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