Variant report

Variant	rs68147667
Chromosome Location	chr2:101220375-101220376
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	TEAD4	chr2:101220349-101220711	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr2:101220373-101220843	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr2:101220272-101221100	H1-neurons	neurons:	n/a	chr2:101220357-101220375 chr2:101220981-101221001
4	POLR2A	chr2:101220349-101221002	H1-neurons	neurons:	n/a	n/a
5	HDAC2	chr2:101220331-101220744	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101218939..101221094-chr2:101617909..101620397,2	MCF-7	breast:
2	chr2:101220173..101222847-chr2:101627348..101629405,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234988	TF binding region
ENSG00000223947	Chromatin interaction
ENSG00000071082	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11678350	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11694047	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4851340	0.85[EUR][1000 genomes]
rs4851343	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4851344	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72827222	0.83[EUR][1000 genomes]
rs7595492	0.83[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv834314	chr2:101210940-101410477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr2:101210400-101231800	Weak transcription	Right Atrium	heart
2	chr2:101218200-101220600	Enhancers	Placenta	Placenta
3	chr2:101218600-101220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:101219400-101220600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:101219400-101220600	Enhancers	Left Ventricle	heart
6	chr2:101219600-101221000	Enhancers	Right Ventricle	heart
7	chr2:101219600-101221200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:101220000-101220400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:101220000-101220400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:101220000-101220400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr2:101220000-101220400	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:101220000-101220600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:101220000-101220600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:101220000-101220600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:101220000-101220600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:101220000-101220600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:101220000-101220600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:101220000-101220600	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:101220000-101220600	Enhancers	Fetal Muscle Leg	muscle
20	chr2:101220000-101220600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr2:101220000-101220800	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:101220000-101221000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:101220000-101221000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:101220000-101221200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:101220000-101221200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:101220000-101221200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:101220000-101221200	Enhancers	Fetal Heart	heart
28	chr2:101220000-101221200	Enhancers	HSMMtube	muscle
29	chr2:101220000-101221400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:101220000-101221400	Enhancers	HSMM	muscle
31	chr2:101220000-101221400	Enhancers	NH-A	brain
32	chr2:101220200-101220400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:101220200-101220400	Enhancers	Brain Angular Gyrus	brain
34	chr2:101220200-101220400	Enhancers	Brain Hippocampus Middle	brain
35	chr2:101220200-101220800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:101220200-101221000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:101220200-101221200	Enhancers	Colon Smooth Muscle	Colon
38	chr2:101220200-101221200	Enhancers	NHDF-Ad	bronchial
39	chr2:101220200-101221400	Enhancers	Brain Anterior Caudate	brain
40	chr2:101220200-101221400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:101220200-101221800	Enhancers	Fetal Brain Male	brain

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