Variant report

Variant	rs17676291
Chromosome Location	chr2:74200131-74200132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:74200024-74200351	GM12891	blood:	n/a	n/a
2	RUNX3	chr2:74199785-74200381	GM12878	blood:	n/a	n/a
3	SPI1	chr2:74199992-74200373	HL-60	blood:	n/a	n/a
4	BATF	chr2:74200019-74200246	GM12878	blood:	n/a	n/a
5	EBF1	chr2:74200048-74200355	GM12878	blood:	n/a	n/a
6	IKZF1	chr2:74199919-74200636	GM12878	blood:	n/a	n/a
7	RUNX3	chr2:74199856-74200437	GM12878	blood:	n/a	n/a
8	MTA3	chr2:74199884-74200560	GM12878	blood:	n/a	n/a
9	CTCF	chr2:74200100-74200250	MCF-7	breast:	n/a	n/a
10	SPI1	chr2:74200038-74200350	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:74199764-74200453	GM12891	blood:	n/a	n/a
12	BATF	chr2:74200010-74200320	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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	chr2:74193955..74195460-chr2:74198080..74201029,2	K562	blood:
4	chr2:74153147..74157362-chr2:74195516..74200497,8	K562	blood:
5	chr2:74195996..74200326-chr2:74212261..74215274,3	K562	blood:

No data

Variant related genes	Relation type
RNA5SP97	TF binding region
ENSG00000255989	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000201876	Chromatin interaction
ENSG00000237883	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

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]
rs17725971	1.00[CHB][hapmap]
rs6717896	1.00[CHB][hapmap]
rs7593050	1.00[CHB][hapmap]
rs870722	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17676291	BOLA3	cis	cerebellum	SCAN
rs17676291	TIA1	cis	parietal	SCAN
rs17676291	CD207	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74187200-74206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:74187800-74202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:74187800-74206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:74195200-74200600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:74196400-74200600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr2:74196800-74201000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:74197000-74200200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:74197000-74200400	Enhancers	Adipose Nuclei	Adipose
9	chr2:74197000-74200600	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:74197200-74200400	Enhancers	Stomach Mucosa	stomach
11	chr2:74197400-74200600	Flanking Active TSS	GM12878-XiMat	blood
12	chr2:74197600-74200200	Enhancers	Colonic Mucosa	Colon
13	chr2:74197600-74200200	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:74197600-74200600	Enhancers	Left Ventricle	heart
15	chr2:74198200-74200800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:74198400-74200200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:74198400-74200400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr2:74198400-74200600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:74198400-74200600	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:74198400-74200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:74198400-74200600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:74198400-74200600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:74198400-74200600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:74198400-74200600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:74198400-74208400	Weak transcription	Aorta	Aorta
26	chr2:74198600-74200600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:74198600-74200600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:74198600-74200800	Enhancers	Primary B cells from cord blood	blood
29	chr2:74198800-74200600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:74199000-74201000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:74199000-74206200	Weak transcription	Esophagus	oesophagus
32	chr2:74199000-74206800	Weak transcription	Pancreas	Pancrea
33	chr2:74199200-74200200	Weak transcription	Fetal Thymus	thymus
34	chr2:74199200-74200200	Weak transcription	Psoas Muscle	Psoas
35	chr2:74199200-74200600	Enhancers	Dnd41	blood
36	chr2:74199200-74200600	Enhancers	K562	blood
37	chr2:74199200-74201200	Enhancers	Primary T cells from cord blood	blood
38	chr2:74199200-74206000	Weak transcription	Lung	lung
39	chr2:74199200-74206200	Weak transcription	NHEK	skin
40	chr2:74199200-74206600	Weak transcription	A549	lung
41	chr2:74199400-74201400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:74199400-74205400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:74199400-74205800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:74199600-74200400	Weak transcription	Thymus	Thymus
45	chr2:74199600-74206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:74199800-74200400	Enhancers	Spleen	Spleen
47	chr2:74199800-74200600	Enhancers	Gastric	stomach
48	chr2:74200000-74200200	Enhancers	Small Intestine	intestine
49	chr2:74200000-74200200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr2:74200000-74200400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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