Variant report

Variant	rs565430828
Chromosome Location	chr2:99441415-99441416
allele	C/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	SPI1	chr2:99441087-99441459	GM12891	blood:	n/a	chr2:99441310-99441317 chr2:99441306-99441319 chr2:99441116-99441129
2	SPI1	chr2:99440775-99441554	HL-60	blood:	n/a	chr2:99441310-99441317 chr2:99441306-99441319 chr2:99441116-99441129 chr2:99440935-99440948
3	SPI1	chr2:99441116-99441424	GM12891	blood:	n/a	chr2:99441310-99441317 chr2:99441306-99441319 chr2:99441116-99441129
4	SPI1	chr2:99440972-99441535	HL-60	blood:	n/a	chr2:99441310-99441317 chr2:99441306-99441319 chr2:99441116-99441129
5	CEBPB	chr2:99441364-99441449	HepG2	liver:	n/a	n/a
6	SPI1	chr2:99441170-99441458	GM12878	blood:	n/a	chr2:99441310-99441317 chr2:99441306-99441319

Variant related genes	Relation type
KIAA1211L	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99418000-99442200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99427400-99442000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:99435600-99444600	Weak transcription	Hela-S3	cervix
4	chr2:99438800-99448600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:99439400-99442400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:99439600-99441600	Enhancers	Fetal Thymus	thymus
7	chr2:99439600-99441800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:99439600-99442800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:99439800-99441600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:99439800-99441800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr2:99439800-99441800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:99439800-99442000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr2:99439800-99442200	Enhancers	Primary T cells from cord blood	blood
14	chr2:99439800-99442200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:99439800-99442200	Weak transcription	Esophagus	oesophagus
16	chr2:99439800-99442200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr2:99439800-99444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:99439800-99446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:99439800-99448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:99440000-99441800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:99440000-99442000	Weak transcription	Pancreas	Pancrea
22	chr2:99440000-99442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:99440000-99443200	Enhancers	HepG2	liver
24	chr2:99440000-99447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:99440200-99442000	Weak transcription	Fetal Intestine Small	intestine
27	chr2:99440200-99442000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:99440200-99442200	Enhancers	Adipose Nuclei	Adipose
29	chr2:99440200-99444000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:99440200-99449800	Weak transcription	Colonic Mucosa	Colon
31	chr2:99440400-99442000	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:99440400-99442400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr2:99440400-99444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
36	chr2:99440600-99441600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:99440600-99441600	Weak transcription	Right Ventricle	heart
38	chr2:99440600-99442000	Weak transcription	Gastric	stomach
39	chr2:99440600-99442200	Enhancers	Primary hematopoietic stem cells	blood
40	chr2:99440600-99442200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:99440600-99442400	Weak transcription	Brain Angular Gyrus	brain
42	chr2:99440600-99442800	Enhancers	Primary B cells from cord blood	blood
43	chr2:99440600-99444200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:99440600-99445600	Weak transcription	Right Atrium	heart
45	chr2:99440600-99445600	Weak transcription	Spleen	Spleen
46	chr2:99440600-99449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:99440600-99449600	Weak transcription	HMEC	breast
48	chr2:99440600-99453800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:99441000-99442600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr2:99441000-99445200	Weak transcription	Thymus	Thymus

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