Variant report

Variant	rs2675969
Chromosome Location	chr2:233766528-233766529
allele	C/T
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	SP1	chr2:233766419-233767132	A549	lung:	n/a	n/a
2	POLR2A	chr2:233766262-233767328	U87	brain:	n/a	n/a
3	SP1	chr2:233766047-233767358	HCT-116	colon:	n/a	n/a
4	RXRA	chr2:233766187-233767230	SK-N-SH	brain:	n/a	n/a
5	CHD2	chr2:233766474-233767106	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:233766324-233767089	HCT-116	colon:	n/a	n/a
7	RAD21	chr2:233766422-233767104	Hela-S3	cervix:	n/a	chr2:233766903-233766917 chr2:233766831-233766844 chr2:233767054-233767067
8	POLR2A	chr2:233766475-233767118	HUVEC	blood vessel:	n/a	n/a
9	FOSL1	chr2:233766181-233767251	HCT-116	colon:	n/a	chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
10	RCOR1	chr2:233766397-233767055	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr2:233766269-233767121	HCT-116	colon:	n/a	n/a
12	POLR2A	chr2:233766430-233767019	Hela-S3	cervix:	n/a	n/a
13	TCF7L2	chr2:233766440-233767096	Hela-S3	cervix:	n/a	n/a
14	JUND	chr2:233766344-233767519	SK-N-SH	brain:	n/a	chr2:233766840-233766851 chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
15	POLR2A	chr2:233766508-233766994	Gliobla	brain:	n/a	n/a
16	FOS	chr2:233766288-233767253	HUVEC	blood vessel:	n/a	chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766866-233766877 chr2:233766868-233766875
17	FOSL2	chr2:233766391-233767311	A549	lung:	n/a	chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766839-233766850 chr2:233766868-233766875
18	POLR2A	chr2:233766180-233767180	Hela-S3	cervix:	n/a	n/a
19	FOSL1	chr2:233766268-233767381	HCT-116	colon:	n/a	chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
20	POLR2A	chr2:233766201-233767258	IMR90	lung:	n/a	n/a
21	SMARCB1	chr2:233765736-233767195	Hela-S3	cervix:	n/a	n/a
22	JUND	chr2:233766012-233767321	HCT-116	colon:	n/a	chr2:233766840-233766851 chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
23	POLR2A	chr2:233766431-233767031	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr2:233766428-233767044	Hela-S3	cervix:	n/a	n/a
25	MAZ	chr2:233766033-233767102	IMR90	lung:	n/a	n/a
26	TCF7L2	chr2:233766151-233767259	HCT-116	colon:	n/a	n/a
27	FOSL2	chr2:233766258-233767212	SK-N-SH	brain:	n/a	chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766839-233766850 chr2:233766868-233766875
28	TFAP2A	chr2:233766276-233767019	Hela-S3	cervix:	n/a	chr2:233766469-233766480
29	TFAP2C	chr2:233766231-233767055	Hela-S3	cervix:	n/a	chr2:233766832-233766847
30	POLR2A	chr2:233766511-233766641	A549	lung:	n/a	n/a
31	POLR2A	chr2:233766262-233767360	U87	brain:	n/a	n/a
32	JUN	chr2:233766466-233767184	K562	blood:	n/a	chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
33	POLR2A	chr2:233766515-233767050	Hela-S3	cervix:	n/a	n/a
34	MAX	chr2:233766083-233767240	A549	lung:	n/a	n/a
35	SP1	chr2:233766107-233767334	HCT-116	colon:	n/a	n/a
36	SP1	chr2:233766438-233767157	A549	lung:	n/a	n/a
37	JUND	chr2:233766153-233767346	HCT-116	colon:	n/a	chr2:233766840-233766851 chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
38	MAX	chr2:233766367-233767148	A549	lung:	n/a	n/a
39	SMC3	chr2:233766436-233767068	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr2:233766488-233767045	Hela-S3	cervix:	n/a	n/a
41	TCF12	chr2:233766401-233767141	A549	lung:	n/a	n/a
42	MAX	chr2:233766361-233767028	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr2:233766299-233766999	Hela-S3	cervix:	n/a	n/a
44	SMARCC1	chr2:233766288-233767275	Hela-S3	cervix:	n/a	n/a
45	RCOR1	chr2:233765761-233767411	IMR90	lung:	n/a	n/a
46	POLR2A	chr2:233766334-233767185	U87	brain:	n/a	n/a
47	JUND	chr2:233766499-233767130	SK-N-SH	brain:	n/a	chr2:233766840-233766851 chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875

Variant related genes	Relation type
NGEF	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1878288	0.80[EUR][1000 genomes]
rs2257942	0.81[EUR][1000 genomes]
rs2344912	0.82[EUR][1000 genomes]
rs2592103	0.82[EUR][1000 genomes]
rs778356	0.81[EUR][1000 genomes]
rs967465	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3352439	chr2:233762108-233766706	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3437356	chr2:233762908-233767406	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:233758200-233768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:233764000-233768800	Weak transcription	Gastric	stomach
5	chr2:233764000-233783800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:233765400-233766600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:233765400-233766600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr2:233765400-233767200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:233765400-233767200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:233765600-233766600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:233765600-233767000	Strong transcription	Fetal Intestine Small	intestine
12	chr2:233765600-233767200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr2:233765600-233767200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:233765800-233766600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
15	chr2:233765800-233766600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:233765800-233766600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr2:233765800-233766600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr2:233765800-233766800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:233765800-233767000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr2:233765800-233767000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr2:233765800-233767200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:233765800-233767400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:233765800-233767400	Enhancers	HMEC	breast
24	chr2:233765800-233767400	Enhancers	HUVEC	blood vessel
25	chr2:233765800-233767800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:233766000-233766600	Strong transcription	Colonic Mucosa	Colon
27	chr2:233766000-233766600	Bivalent Enhancer	Fetal Lung	lung
28	chr2:233766000-233767000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:233766000-233767200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:233766000-233767400	Enhancers	NHDF-Ad	bronchial
31	chr2:233766000-233767400	Enhancers	NHEK	skin
32	chr2:233766000-233767400	Enhancers	Osteobl	bone
33	chr2:233766000-233767600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:233766000-233767600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:233766200-233766600	Strong transcription	Liver	Liver
36	chr2:233766200-233766600	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:233766200-233766600	Enhancers	Lung	lung
38	chr2:233766200-233766600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr2:233766200-233766600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr2:233766200-233766800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr2:233766200-233766800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr2:233766200-233766800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
43	chr2:233766200-233766800	Flanking Active TSS	Hela-S3	cervix
44	chr2:233766200-233767000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:233766200-233767000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:233766200-233767200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
47	chr2:233766200-233767200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:233766200-233767200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:233766200-233767200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:233766200-233767200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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