Variant report

Variant	rs2864048
Chromosome Location	chr2:55193191-55193192
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	chr2:55193161-55194898	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr2:55193058-55197604	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr2:55192057-55196307	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr2:55190471-55199022	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr2:55193167-55197152	U87	brain:	n/a	n/a
6	MYC	chr2:55193110-55193523	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr2:55193075-55193453	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr2:55190362-55199062	U87	brain:	n/a	n/a
9	POLR2A	chr2:55193167-55197203	U87	brain:	n/a	n/a
10	POLR2A	chr2:55193084-55194227	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr2:55191336-55197109	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr2:55193180-55198666	IMR90	lung:	n/a	n/a
13	POLR2A	chr2:55190362-55199105	U87	brain:	n/a	n/a
14	FOS	chr2:55193161-55193279	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:55193148-55193277	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55192020..55193773-chr2:55201950..55203496,2	K562	blood:
2	chr2:55130491..55133378-chr2:55191719..55193881,2	MCF-7	breast:

Variant related genes	Relation type
EML6	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11884082	0.85[AMR][1000 genomes]
rs11886393	0.83[AMR][1000 genomes]
rs11892015	0.85[AMR][1000 genomes]
rs11895689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897363	0.83[AMR][1000 genomes]
rs11899197	0.85[AMR][1000 genomes]
rs11899295	0.85[AMR][1000 genomes]
rs15028	0.85[AMR][1000 genomes]
rs17046545	0.85[AMR][1000 genomes]
rs17046564	0.85[AMR][1000 genomes]
rs2864047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58156158	0.85[AMR][1000 genomes]
rs73936506	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936508	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936512	0.85[AMR][1000 genomes]
rs73936517	0.85[AMR][1000 genomes]
rs73936518	0.85[AMR][1000 genomes]
rs73936821	0.85[AMR][1000 genomes]
rs73936824	0.85[AMR][1000 genomes]
rs957920	0.85[AMR][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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55168800-55193400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55173000-55193400	Weak transcription	Aorta	Aorta
3	chr2:55173200-55203400	Weak transcription	Gastric	stomach
4	chr2:55173600-55194000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:55173600-55195000	Weak transcription	Pancreas	Pancrea
6	chr2:55174800-55194000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:55175400-55193200	Weak transcription	Fetal Brain Female	brain
8	chr2:55175600-55194600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:55175800-55193800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:55177800-55193800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:55178200-55193400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:55178600-55193400	Weak transcription	Spleen	Spleen
13	chr2:55180600-55193600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:55180600-55195400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:55180600-55196000	Weak transcription	NH-A	brain
16	chr2:55181600-55193600	Weak transcription	Lung	lung
17	chr2:55181600-55203400	Weak transcription	Ovary	ovary
18	chr2:55183200-55193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:55183200-55193200	Weak transcription	NHLF	lung
20	chr2:55183200-55206800	Weak transcription	Stomach Mucosa	stomach
21	chr2:55183400-55196600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:55183800-55193600	Weak transcription	A549	lung
23	chr2:55184800-55195800	Weak transcription	Thymus	Thymus
24	chr2:55184800-55214800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:55185200-55193400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:55185200-55194000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:55186000-55194400	Weak transcription	Primary B cells from cord blood	blood
28	chr2:55186400-55193400	Weak transcription	Brain Anterior Caudate	brain
29	chr2:55186400-55193800	Weak transcription	Brain Angular Gyrus	brain
30	chr2:55187000-55195000	Weak transcription	Dnd41	blood
31	chr2:55187600-55194200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:55190000-55193400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:55190000-55198400	Weak transcription	Colonic Mucosa	Colon
34	chr2:55190000-55203400	Weak transcription	Small Intestine	intestine
35	chr2:55190400-55194400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:55190600-55193400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:55190600-55193600	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:55190600-55198000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr2:55190800-55194400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:55190800-55194400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr2:55190800-55196600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:55191000-55193200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:55191000-55193400	Weak transcription	HepG2	liver
44	chr2:55191000-55193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:55191000-55194200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:55191000-55194200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:55191000-55194400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:55191200-55193400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:55191200-55194200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:55191200-55195400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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