Variant report

Variant	rs13013293
Chromosome Location	chr2:233986596-233986597
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	MAX	chr2:233986566-233987115	MCF-7	breast:	n/a	chr2:233987075-233987084
2	NR2F2	chr2:233986536-233987322	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:233986580-233986771	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:233986564-233987036	GM12891	blood:	n/a	n/a
5	MAX	chr2:233986547-233986933	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
INPP5D	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]
rs10193128	0.96[CEU][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12694926	0.87[EUR][1000 genomes]
rs12694928	0.87[EUR][1000 genomes]
rs12987520	0.80[EUR][1000 genomes]
rs13011232	0.80[EUR][1000 genomes]
rs13021947	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13022011	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13388142	0.86[EUR][1000 genomes]
rs35368576	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6717453	0.81[AMR][1000 genomes]
rs7597516	0.87[EUR][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	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233965800-233988200	Weak transcription	HUVEC	blood vessel
2	chr2:233969800-233996800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:233972800-233989000	Weak transcription	Lung	lung
4	chr2:233976000-233990800	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr2:233978000-233986800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:233978000-233989000	Weak transcription	Left Ventricle	heart
7	chr2:233978000-233991800	Weak transcription	Esophagus	oesophagus
8	chr2:233980800-233986600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:233982200-233989000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:233982200-233997000	Weak transcription	Right Atrium	heart
11	chr2:233982400-233995000	Weak transcription	Colonic Mucosa	Colon
12	chr2:233982600-233986600	Weak transcription	Dnd41	blood
13	chr2:233982600-233986800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:233982600-233995000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:233983000-233986600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:233983200-233986800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:233983400-233986600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:233983400-233990000	Weak transcription	Right Ventricle	heart
19	chr2:233983400-233991600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:233983400-233993400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:233983600-233986600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:233983600-233986600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:233983600-233986800	Strong transcription	Primary B cells from cord blood	blood
24	chr2:233983600-233986800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:233983600-233990000	Weak transcription	Adipose Nuclei	Adipose
26	chr2:233983800-233986600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:233983800-233986600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:233983800-233986600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:233983800-233986600	Weak transcription	Thymus	Thymus
30	chr2:233983800-233990200	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:233984000-233986600	Weak transcription	Fetal Thymus	thymus
32	chr2:233984000-234003600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:233984200-233986800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:233984400-233986600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:233984400-233986600	Weak transcription	HepG2	liver
36	chr2:233984600-233987000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:233984800-233986600	Weak transcription	Spleen	Spleen
38	chr2:233984800-233986600	Weak transcription	GM12878-XiMat	blood
39	chr2:233984800-233996400	Weak transcription	Brain Anterior Caudate	brain
40	chr2:233985000-233986600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:233985200-233986600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:233985200-233986800	Enhancers	Placenta	Placenta
43	chr2:233985400-233986600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:233985400-233990000	Weak transcription	Gastric	stomach
45	chr2:233985600-233986600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr2:233985600-233986600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:233985600-233986600	Weak transcription	Pancreas	Pancrea
48	chr2:233985600-233990600	Weak transcription	Liver	Liver
49	chr2:233985800-233986800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:233985800-233989000	Weak transcription	Fetal Stomach	stomach

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