Variant report

Variant	rs68152859
Chromosome Location	chr2:11699747-11699748
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	SIN3AK20	chr2:11698298-11700553	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:11697332-11700490	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:11699677-11699997	HepG2	liver:	n/a	n/a
4	NR2F2	chr2:11699187-11699826	MCF-7	breast:	n/a	chr2:11699551-11699566
5	ZNF217	chr2:11699390-11700103	MCF-7	breast:	n/a	n/a
6	PML	chr2:11699342-11699922	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11698164..11701125-chr2:11728905..11731713,2	K562	blood:
2	chr2:11699009..11701296-chr2:218182757..218185396,2	MCF-7	breast:
3	chr2:11679729..11680386-chr2:11699341..11700025,2	MCF-7	breast:
4	chr2:11272919..11274870-chr2:11698095..11699910,2	K562	blood:

Variant related genes	Relation type
RNU2-13P	TF binding region
ENSG00000145063	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000150873	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10427206	0.87[ASN][1000 genomes]
rs5020877	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58738000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61039324	0.87[ASN][1000 genomes]
rs6710534	0.82[EUR][1000 genomes]
rs6718650	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6728463	0.82[EUR][1000 genomes]
rs6745409	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72772060	0.87[ASN][1000 genomes]
rs73915431	0.87[ASN][1000 genomes]
rs73915432	0.83[ASN][1000 genomes]
rs7564191	0.83[ASN][1000 genomes]
rs9784026	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9784028	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1814335	chr2:11689048-11718858	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11690000-11711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:11691400-11699800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:11694800-11755200	Weak transcription	Gastric	stomach
5	chr2:11696000-11699800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:11696200-11700400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:11696400-11700200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:11697000-11702200	Weak transcription	Pancreas	Pancrea
9	chr2:11697000-11706800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:11697000-11710800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:11697000-11722600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:11697000-11723000	Weak transcription	Brain Anterior Caudate	brain
13	chr2:11697000-11723200	Weak transcription	Brain Angular Gyrus	brain
14	chr2:11697600-11699800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11697600-11699800	Enhancers	Fetal Heart	heart
16	chr2:11697600-11700200	Enhancers	Left Ventricle	heart
17	chr2:11697600-11700400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:11697600-11700600	Transcr. at gene 5' and 3'	Ovary	ovary
19	chr2:11697800-11706800	Weak transcription	Brain Substantia Nigra	brain
20	chr2:11698000-11699800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:11698200-11699800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:11698200-11700000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:11698600-11700000	Enhancers	Right Atrium	heart
24	chr2:11698600-11713200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:11698600-11713400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:11698800-11700400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:11698800-11703600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:11698800-11706200	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:11698800-11713400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:11699000-11700400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:11699000-11701000	Strong transcription	HepG2	liver
32	chr2:11699000-11714400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:11699400-11699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:11699400-11700400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:11699400-11706600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:11699400-11706800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:11699600-11699800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:11699600-11700200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:11699600-11700200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:11699600-11700400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:11699600-11700400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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