Variant report

Variant	rs139412791
Chromosome Location	chr16:75505472-75505473
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	CTCF	chr16:75505400-75505550	GM06990	blood:	n/a	n/a
2	CTCF	chr16:75505380-75505530	K562	blood:	n/a	n/a
3	CTCF	chr16:75505360-75505510	WI-38	lung:	n/a	n/a
4	CTCF	chr16:75505400-75505550	GM12875	blood:	n/a	n/a
5	CTCF	chr16:75505420-75505570	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr16:75505400-75505550	HA-sp	spinal cord:	n/a	n/a
7	CTCF	chr16:75505380-75505530	HCFaa	heart:	n/a	n/a
8	CTCF	chr16:75505415-75506256	A549	lung:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
9	CTCF	chr16:75505400-75505550	MCF-7	breast:	n/a	n/a
10	CTCF	chr16:75505403-75506329	HCT-116	colon:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
11	SMC3	chr16:75505326-75506574	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr16:75505435-75506286	HCT-116	colon:	n/a	chr16:75505653-75505666 chr16:75505845-75505864 chr16:75505655-75505665
13	RAD21	chr16:75505435-75506413	SK-N-SH	brain:	n/a	chr16:75505653-75505666 chr16:75505845-75505864 chr16:75505655-75505665
14	RAD21	chr16:75505454-75506270	HCT-116	colon:	n/a	chr16:75505653-75505666 chr16:75505845-75505864 chr16:75505655-75505665
15	CTCF	chr16:75505467-75505563	ProgFib	skin:	n/a	n/a
16	CTCF	chr16:75505406-75506178	SK-N-SH	brain:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862

No.	Distal block	Cell Line	Cell type
1	chr16:75503918..75505841-chr16:75588439..75590620,2	MCF-7	breast:
2	chr16:75505099..75506340-chr16:75550615..75551890,14	MCF-7	breast:
3	chr16:75505389..75506473-chr16:75583495..75584930,9	MCF-7	breast:
4	chr16:75505427..75506354-chr16:75654710..75655557,4	MCF-7	breast:
5	chr16:75505406..75506311-chr16:75797784..75798667,3	MCF-7	breast:
6	chr16:75497399..75499829-chr16:75504719..75506935,2	K562	blood:
7	chr16:75505198..75507754-chr16:75508642..75511329,3	MCF-7	breast:
8	chr16:75503553..75505745-chr16:75588650..75591373,2	MCF-7	breast:
9	chr16:75505434..75506225-chr16:75525498..75526266,4	MCF-7	breast:
10	chr16:75498302..75501327-chr16:75504047..75506943,4	MCF-7	breast:
11	chr16:75505256..75507400-chr16:75525903..75527940,2	MCF-7	breast:
12	chr16:75505378..75506356-chr16:75797770..75798866,7	K562	blood:
13	chr16:75503615..75506963-chr16:75549703..75552207,3	MCF-7	breast:
14	chr16:75505348..75506153-chr16:75551055..75551869,3	MCF-7	breast:
15	chr16:75505393..75505919-chr16:75525499..75526021,2	MCF-7	breast:
16	chr16:75503001..75505927-chr16:75587791..75590267,2	K562	blood:

Variant related genes	Relation type
ENSG00000203472	TF binding region
ENSG00000261717	Chromatin interaction
ENSG00000203472	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000166822	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers 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	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv572980	chr16:75505046-75549885	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75498600-75506800	Weak transcription	Brain Substantia Nigra	brain
2	chr16:75498600-75511800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:75498800-75505600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:75498800-75505600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:75498800-75507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:75498800-75518600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:75499000-75511000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:75499000-75511200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:75499000-75511200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr16:75499200-75505800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:75499200-75505800	Weak transcription	Fetal Heart	heart
12	chr16:75499200-75506000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:75499200-75506200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr16:75499200-75511400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:75499200-75511400	Weak transcription	Brain Anterior Caudate	brain
16	chr16:75499200-75519600	Weak transcription	Fetal Intestine Small	intestine
17	chr16:75499400-75505600	Weak transcription	Hela-S3	cervix
18	chr16:75501400-75506000	Weak transcription	HepG2	liver
19	chr16:75502400-75518200	Weak transcription	Aorta	Aorta
20	chr16:75504000-75506800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:75505000-75505800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr16:75505000-75507000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr16:75505200-75506000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr16:75505400-75505800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr16:75505400-75507200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr16:75505400-75512600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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