Variant report

Variant	rs2193621
Chromosome Location	chr2:172292725-172292726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:172292720-172293316	SK-N-SH	brain:	n/a	n/a
2	STAT3	chr2:172292567-172293159	MCF10A-Er-Src	breast:	n/a	n/a
3	KAP1	chr2:172292370-172292902	K562	blood:	n/a	n/a
4	SETDB1	chr2:172292676-172293206	U2OS	brain:	n/a	n/a
5	GATA3	chr2:172292719-172293372	SK-N-SH	brain:	n/a	n/a
6	JUND	chr2:172292687-172293270	SK-N-SH	brain:	n/a	chr2:172293001-172293012

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172289123..172292836-chr2:172306272..172310763,6	K562	blood:
2	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:
3	chr2:172288832..172292910-chr2:172322388..172326341,4	K562	blood:
4	chr2:172014091..172018646-chr2:172288530..172293107,15	MCF-7	breast:
5	chr2:172013226..172020125-chr2:172287594..172292844,18	MCF-7	breast:
6	chr2:171894172..171896677-chr2:172291398..172293254,2	MCF-7	breast:
7	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
8	chr2:172287467..172293160-chr2:172293206..172300397,21	K562	blood:
9	chr2:172288511..172290810-chr2:172291343..172292925,2	K562	blood:
10	chr2:172288399..172293582-chr2:172376630..172381034,10	K562	blood:

No data

Variant related genes	Relation type
METTL8	TF binding region
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000071967	Chromatin interaction
ENSG00000233762	Chromatin interaction
ENSG00000198586	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1178010	0.82[YRI][hapmap]
rs11891287	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs13006153	0.83[LWK][hapmap];0.82[YRI][hapmap]
rs1733487	0.82[YRI][hapmap]
rs6741663	1.00[AFR][1000 genomes]
rs888428	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291400-172295200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:172291400-172296200	Weak transcription	Lung	lung
4	chr2:172291400-172296200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:172291400-172296200	Weak transcription	Spleen	Spleen
6	chr2:172291400-172296400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:172291400-172296400	Weak transcription	Aorta	Aorta
8	chr2:172291400-172296400	Weak transcription	Small Intestine	intestine
9	chr2:172291400-172297800	Weak transcription	Esophagus	oesophagus
10	chr2:172291400-172297800	Weak transcription	Gastric	stomach
11	chr2:172291600-172292800	Weak transcription	Left Ventricle	heart
12	chr2:172291600-172293400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:172291600-172295200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:172291600-172295200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:172291600-172295200	Weak transcription	Ovary	ovary
16	chr2:172291600-172296000	Weak transcription	Right Ventricle	heart
17	chr2:172291600-172297800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:172291600-172304000	Weak transcription	Pancreas	Pancrea
19	chr2:172291600-172305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
21	chr2:172291800-172292800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:172291800-172292800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:172291800-172293000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:172291800-172293000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:172291800-172293400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:172291800-172293800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:172291800-172295000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:172291800-172295200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:172291800-172295200	Weak transcription	Fetal Stomach	stomach
30	chr2:172291800-172296400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:172291800-172296400	Weak transcription	Colonic Mucosa	Colon
32	chr2:172291800-172296600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:172291800-172297800	Weak transcription	HSMMtube	muscle
34	chr2:172291800-172300000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:172291800-172306400	Weak transcription	Psoas Muscle	Psoas
36	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:172292000-172292800	Weak transcription	Adipose Nuclei	Adipose
38	chr2:172292000-172292800	Weak transcription	Fetal Thymus	thymus
39	chr2:172292000-172292800	ZNF genes & repeats	NHEK	skin
40	chr2:172292000-172293000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:172292000-172293200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:172292000-172293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:172292000-172293600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:172292000-172293600	Weak transcription	NH-A	brain
45	chr2:172292000-172293800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:172292000-172295200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:172292000-172296000	Weak transcription	Thymus	Thymus
48	chr2:172292000-172296400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:172292000-172297200	Weak transcription	NHLF	lung
50	chr2:172292000-172304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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