Variant report

Variant	rs967465
Chromosome Location	chr2:233767315-233767316
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	POLR2A	chr2:233766262-233767328	U87	brain:	n/a	n/a
2	SP1	chr2:233766047-233767358	HCT-116	colon:	n/a	n/a
3	JUND	chr2:233766344-233767519	SK-N-SH	brain:	n/a	chr2:233766840-233766851 chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
4	FOSL1	chr2:233766268-233767381	HCT-116	colon:	n/a	chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
5	JUND	chr2:233766012-233767321	HCT-116	colon:	n/a	chr2:233766840-233766851 chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
6	POLR2A	chr2:233766262-233767360	U87	brain:	n/a	n/a
7	SP1	chr2:233766107-233767334	HCT-116	colon:	n/a	n/a
8	JUND	chr2:233766153-233767346	HCT-116	colon:	n/a	chr2:233766840-233766851 chr2:233766868-233766876 chr2:233766867-233766877 chr2:233766868-233766875
9	RCOR1	chr2:233765761-233767411	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233766884..233768683-chr2:233770434..233772099,2	K562	blood:

Variant related genes	Relation type
NGEF	TF binding region
ENSG00000066248	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2257942	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2592103	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2675969	0.80[EUR][1000 genomes]
rs778337	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs778343	0.81[EUR][1000 genomes]
rs778357	0.83[EUR][1000 genomes]
rs778359	0.83[EUR][1000 genomes]
rs778362	0.83[EUR][1000 genomes]
rs778367	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs809017	0.88[ASN][1000 genomes]
rs895434	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:34 , 50 per page) page: 1

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	chr2:233765800-233767400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:233765800-233767400	Enhancers	HMEC	breast
8	chr2:233765800-233767400	Enhancers	HUVEC	blood vessel
9	chr2:233765800-233767800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:233766000-233767400	Enhancers	NHDF-Ad	bronchial
11	chr2:233766000-233767400	Enhancers	NHEK	skin
12	chr2:233766000-233767400	Enhancers	Osteobl	bone
13	chr2:233766000-233767600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:233766000-233767600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:233766200-233767400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:233766200-233767400	Flanking Active TSS	A549	lung
17	chr2:233766400-233767400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:233766600-233767600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:233766600-233768600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:233766600-233776400	Weak transcription	Liver	Liver
21	chr2:233766800-233768000	Enhancers	Hela-S3	cervix
22	chr2:233767000-233767400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:233767000-233772000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:233767000-233789000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:233767200-233767400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:233767200-233767400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:233767200-233767400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:233767200-233767400	Enhancers	HSMM	muscle
29	chr2:233767200-233767400	Enhancers	NHLF	lung
30	chr2:233767200-233767600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:233767200-233771800	Weak transcription	HepG2	liver
32	chr2:233767200-233772000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:233767200-233776200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:233767200-233790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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