Variant report

Variant	rs6738808
Chromosome Location	chr2:7135248-7135249
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	EP300	chr2:7132151-7135468	SK-N-SH	brain:	n/a	chr2:7135332-7135340 chr2:7134544-7134558 chr2:7135327-7135341 chr2:7134731-7134747

Variant related genes	Relation type
RNF144A	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11689407	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72781742	0.80[EUR][1000 genomes]
rs72781748	0.86[EUR][1000 genomes]
rs72781751	0.84[EUR][1000 genomes]
rs72781768	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72781772	0.96[EUR][1000 genomes]
rs72781782	0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
2	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
5	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
6	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:7126800-7141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:7127600-7138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:7127600-7143600	Weak transcription	HepG2	liver
14	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:7131200-7141000	Strong transcription	Primary T cells from cord blood	blood
16	chr2:7131200-7146800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:7131400-7135400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:7131400-7135600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:7131400-7150200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:7131400-7162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:7131600-7136600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:7131600-7137200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:7131600-7137200	Enhancers	Brain Substantia Nigra	brain
24	chr2:7131600-7154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:7131600-7154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:7131800-7139000	Weak transcription	Fetal Thymus	thymus
27	chr2:7132000-7136200	Enhancers	Right Atrium	heart
28	chr2:7132200-7135400	Enhancers	Left Ventricle	heart
29	chr2:7132200-7135600	Enhancers	Brain Angular Gyrus	brain
30	chr2:7132200-7135800	Enhancers	Adipose Nuclei	Adipose
31	chr2:7132400-7135400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:7132400-7135600	Enhancers	Fetal Muscle Trunk	muscle
33	chr2:7132600-7135400	Enhancers	Brain Germinal Matrix	brain
34	chr2:7132600-7136800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:7132600-7137400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:7132800-7135400	Enhancers	Pancreas	Pancrea
37	chr2:7132800-7136000	Enhancers	Spleen	Spleen
38	chr2:7132800-7146600	Weak transcription	Fetal Heart	heart
39	chr2:7133000-7135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:7133400-7135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:7133400-7147400	Weak transcription	Fetal Kidney	kidney
42	chr2:7133600-7137000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:7133800-7135600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:7133800-7136600	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:7133800-7136600	Enhancers	Brain Hippocampus Middle	brain
46	chr2:7133800-7137200	Enhancers	Brain Anterior Caudate	brain
47	chr2:7133800-7138600	Weak transcription	Ovary	ovary
48	chr2:7133800-7147400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:7133800-7147600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:7133800-7147800	Weak transcription	Fetal Brain Female	brain

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