Variant report

Variant	rs58767639
Chromosome Location	chr2:209133619-209133620
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:209133601-209133681	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr2:209133212-209133805	HL-60	blood:	n/a	chr2:209133641-209133654
3	SPI1	chr2:209133253-209133739	HL-60	blood:	n/a	chr2:209133641-209133654
4	SPI1	chr2:209133354-209133646	GM12878	blood:	n/a	n/a
5	CUX1	chr2:209133408-209133963	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209040053..209040651-chr2:209133538..209134369,3	K562	blood:
2	chr2:209121994..209124234-chr2:209131369..209133621,2	MCF-7	breast:
3	chr2:209111341..209112901-chr2:209132498..209134029,2	K562	blood:
4	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
5	chr2:209129669..209131681-chr2:209132251..209135245,2	K562	blood:
6	chr2:209118313..209121811-chr2:209130870..209135068,6	MCF-7	breast:
7	chr2:209129671..209132812-chr2:209132994..209136144,5	MCF-7	breast:

No data

Variant related genes	Relation type
IDH1	TF binding region
ENSG00000115020	Chromatin interaction
ENSG00000231908	Chromatin interaction
ENSG00000138413	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56155387	1.00[AFR][1000 genomes]
rs73983718	1.00[AFR][1000 genomes]
rs73983721	1.00[AFR][1000 genomes]
rs73983722	1.00[AFR][1000 genomes]
rs73983725	1.00[AFR][1000 genomes]
rs73983728	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209131600-209134400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:209131800-209134400	Enhancers	Small Intestine	intestine
3	chr2:209131800-209143200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:209132000-209134400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:209132000-209134600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:209132000-209134600	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:209132000-209134600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:209132000-209134600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr2:209132200-209133800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:209132200-209134200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:209132200-209134400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:209132200-209134600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:209132200-209134800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:209132200-209134800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:209132200-209138200	Weak transcription	HSMMtube	muscle
16	chr2:209132200-209144800	Weak transcription	Aorta	Aorta
17	chr2:209132400-209133800	Flanking Active TSS	Dnd41	blood
18	chr2:209132400-209134000	Enhancers	Primary T cells from cord blood	blood
19	chr2:209132400-209134400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:209132400-209134800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:209132600-209134000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:209132600-209134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:209132600-209134000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:209132600-209134000	Enhancers	Brain Germinal Matrix	brain
25	chr2:209132600-209134200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:209132600-209134200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:209132600-209134400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:209132600-209134400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:209132600-209137400	Weak transcription	NHDF-Ad	bronchial
30	chr2:209132600-209137800	Weak transcription	Fetal Intestine Large	intestine
31	chr2:209132600-209138200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:209132800-209133800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:209132800-209133800	Enhancers	Liver	Liver
34	chr2:209132800-209133800	Weak transcription	Psoas Muscle	Psoas
35	chr2:209132800-209134000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:209132800-209134000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:209132800-209134000	Weak transcription	Esophagus	oesophagus
38	chr2:209132800-209134000	Weak transcription	Fetal Intestine Small	intestine
39	chr2:209132800-209134000	Weak transcription	Left Ventricle	heart
40	chr2:209132800-209134000	Weak transcription	Lung	lung
41	chr2:209132800-209134000	Weak transcription	Ovary	ovary
42	chr2:209132800-209134000	Weak transcription	Pancreas	Pancrea
43	chr2:209132800-209134000	Weak transcription	Right Atrium	heart
44	chr2:209132800-209134000	Weak transcription	Right Ventricle	heart
45	chr2:209132800-209134000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:209132800-209134000	Weak transcription	Spleen	Spleen
47	chr2:209132800-209134200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:209132800-209134200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:209132800-209134400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr2:209132800-209134600	Enhancers	Primary hematopoietic stem cells	blood

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