Variant report

Variant	rs34768748
Chromosome Location	chr5:70828146-70828147
allele	G/T
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	RFX5	chr5:70827938-70828335	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
BDP1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs59596395	1.00[AMR][1000 genomes]
rs60977492	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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 target site	10 gene(s)	inside rSNPs	diseases
3	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv882177	chr5:70800538-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv882178	chr5:70806958-70856378	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv882179	chr5:70807073-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70759800-70833400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:70777600-70837600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
4	chr5:70799400-70840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:70799800-70838800	Weak transcription	Spleen	Spleen
6	chr5:70801800-70839000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:70805800-70844600	Weak transcription	Gastric	stomach
8	chr5:70806200-70831400	Weak transcription	Fetal Brain Male	brain
9	chr5:70806600-70829200	Weak transcription	Psoas Muscle	Psoas
10	chr5:70820000-70839000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:70820200-70828200	Weak transcription	Hela-S3	cervix
12	chr5:70820200-70828600	Weak transcription	HSMM	muscle
13	chr5:70820200-70828600	Weak transcription	NHLF	lung
14	chr5:70820200-70831400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:70820200-70831400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:70820200-70831400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:70820200-70831800	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:70820200-70831800	Weak transcription	Ovary	ovary
19	chr5:70820200-70832200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:70820200-70837400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:70820200-70838400	Weak transcription	Aorta	Aorta
22	chr5:70820200-70838800	Weak transcription	Pancreas	Pancrea
23	chr5:70820200-70838800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:70820200-70839000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:70820200-70839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:70820200-70841200	Weak transcription	Colonic Mucosa	Colon
27	chr5:70820200-70841200	Weak transcription	Esophagus	oesophagus
28	chr5:70820200-70841200	Weak transcription	Right Ventricle	heart
29	chr5:70820200-70841400	Weak transcription	HSMMtube	muscle
30	chr5:70820200-70857400	Weak transcription	Small Intestine	intestine
31	chr5:70820400-70828200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:70820400-70828400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:70820400-70828600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:70820400-70828600	Weak transcription	Brain Anterior Caudate	brain
35	chr5:70820400-70829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:70820400-70830000	Weak transcription	Fetal Thymus	thymus
37	chr5:70820400-70830400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:70820400-70831200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:70820400-70831400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:70820400-70831400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:70820400-70831400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:70820400-70831400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:70820400-70831400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:70820400-70838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:70820400-70838200	Weak transcription	Brain Angular Gyrus	brain
46	chr5:70820400-70838200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:70820400-70838800	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:70820400-70839000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:70820400-70839200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:70820400-70845800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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