Variant report

Variant	rs13414682
Chromosome Location	chr2:7136177-7136178
allele	C/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	CTCF	chr2:7136154-7136184	GM13976	blood:	n/a	n/a

Variant related genes	Relation type
RNF144A	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13399156	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3755507	0.95[ASN][1000 genomes]
rs3771985	0.95[ASN][1000 genomes]
rs3771990	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs771254	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs771258	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs771260	0.80[ASN][1000 genomes]
rs771261	0.80[ASN][1000 genomes]
rs771269	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs771270	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs896788	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3447452	chr2:7136145-7136713	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 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	chr2:7131400-7150200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:7131400-7162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:7131600-7136600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:7131600-7137200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:7131600-7137200	Enhancers	Brain Substantia Nigra	brain
22	chr2:7131600-7154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:7131600-7154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:7131800-7139000	Weak transcription	Fetal Thymus	thymus
25	chr2:7132000-7136200	Enhancers	Right Atrium	heart
26	chr2:7132600-7136800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:7132600-7137400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:7132800-7146600	Weak transcription	Fetal Heart	heart
29	chr2:7133400-7147400	Weak transcription	Fetal Kidney	kidney
30	chr2:7133600-7137000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:7133800-7136600	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:7133800-7136600	Enhancers	Brain Hippocampus Middle	brain
33	chr2:7133800-7137200	Enhancers	Brain Anterior Caudate	brain
34	chr2:7133800-7138600	Weak transcription	Ovary	ovary
35	chr2:7133800-7147400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:7133800-7147600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:7133800-7147800	Weak transcription	Fetal Brain Female	brain
38	chr2:7133800-7150800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:7134000-7136400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:7134400-7136200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:7134400-7136400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:7134400-7140800	Strong transcription	Dnd41	blood
43	chr2:7134400-7147400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:7134600-7139000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:7134600-7139200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:7135000-7136600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:7135000-7137200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:7135000-7138600	Weak transcription	Right Ventricle	heart
49	chr2:7135000-7138800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:7135000-7139000	Weak transcription	Primary B cells from cord blood	blood

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