Variant report

Variant	rs870722
Chromosome Location	chr2:74197109-74197110
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	MYC	chr2:74196577-74197223	NB4	blood:	n/a	n/a
2	CEBPB	chr2:74196575-74197208	IMR90	lung:	n/a	chr2:74197037-74197048 chr2:74197054-74197065
3	CTCF	chr2:74196960-74197110	AG09319	gingival:	n/a	n/a
4	CEBPB	chr2:74196937-74197195	K562	blood:	n/a	chr2:74197037-74197048 chr2:74197054-74197065
5	MAX	chr2:74196463-74197264	NB4	blood:	n/a	n/a
6	CEBPB	chr2:74196857-74197215	HepG2	liver:	n/a	chr2:74197037-74197048 chr2:74197054-74197065

No.	Distal block	Cell Line	Cell type
1	chr2:74152447..74156912-chr2:74195516..74200343,6	K562	blood:
2	chr2:74194837..74202788-chr2:74203103..74212249,15	K562	blood:
3	chr2:74187365..74198553-chr2:74205167..74212961,17	MCF-7	breast:
4	chr2:74153147..74157362-chr2:74195516..74200497,8	K562	blood:
5	chr2:74195594..74197373-chr2:74197658..74199484,2	K562	blood:
6	chr2:74195996..74200326-chr2:74212261..74215274,3	K562	blood:
7	chr2:74196652..74199654-chr2:74200150..74203074,3	K562	blood:

Variant related genes	Relation type
RNA5SP97	TF binding region
ENSG00000237883	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000114956	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10188058	1.00[CHB][hapmap]
rs1025424	1.00[CHB][hapmap]
rs11683738	1.00[CHB][hapmap]
rs11898903	1.00[CHB][hapmap]
rs12466586	1.00[CHB][hapmap]
rs12991192	1.00[CHB][hapmap]
rs12995468	1.00[CHB][hapmap]
rs13011961	1.00[CHB][hapmap]
rs13016198	1.00[CHB][hapmap]
rs17404009	1.00[CHB][hapmap]
rs17676291	1.00[CHB][hapmap]
rs17725971	1.00[CHB][hapmap]
rs6717896	1.00[CHB][hapmap]
rs7593050	1.00[CHB][hapmap]

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	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74164800-74197200	Weak transcription	Stomach Mucosa	stomach
2	chr2:74182000-74197600	Weak transcription	Small Intestine	intestine
3	chr2:74185600-74197400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:74186400-74197600	Weak transcription	Gastric	stomach
5	chr2:74186600-74197600	Weak transcription	Pancreas	Pancrea
6	chr2:74186800-74197800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:74187000-74197600	Weak transcription	Fetal Lung	lung
8	chr2:74187000-74197600	Weak transcription	HSMMtube	muscle
9	chr2:74187000-74197800	Weak transcription	NHLF	lung
10	chr2:74187000-74198000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:74187200-74197400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:74187200-74197400	Weak transcription	Lung	lung
13	chr2:74187200-74197400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:74187200-74197600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:74187200-74197600	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:74187200-74197600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:74187200-74197600	Weak transcription	Colonic Mucosa	Colon
18	chr2:74187200-74197600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:74187200-74197600	Weak transcription	Placenta	Placenta
20	chr2:74187200-74197600	Weak transcription	Left Ventricle	heart
21	chr2:74187200-74197600	Weak transcription	Psoas Muscle	Psoas
22	chr2:74187200-74197600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:74187200-74197600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:74187200-74197600	Weak transcription	Hela-S3	cervix
25	chr2:74187200-74197600	Weak transcription	NHDF-Ad	bronchial
26	chr2:74187200-74197800	Weak transcription	Liver	Liver
27	chr2:74187200-74197800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:74187200-74198000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:74187200-74198200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:74187200-74198200	Weak transcription	Ovary	ovary
31	chr2:74187200-74198200	Weak transcription	NHEK	skin
32	chr2:74187200-74206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:74187400-74197600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:74187400-74198200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:74187600-74197600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:74187800-74197200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:74187800-74197400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:74187800-74197600	Weak transcription	Esophagus	oesophagus
39	chr2:74187800-74198000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:74187800-74198000	Weak transcription	Fetal Intestine Large	intestine
41	chr2:74187800-74202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:74187800-74206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:74188000-74198000	Weak transcription	A549	lung
44	chr2:74188600-74198200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:74192200-74197200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:74194000-74197400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:74194200-74197600	Enhancers	Primary T cells from cord blood	blood
48	chr2:74194200-74197600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:74194400-74197600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:74194400-74197600	Enhancers	Primary T helper cells fromperipheralblood	blood

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