Variant report

Variant	rs35091778
Chromosome Location	chr16:75293047-75293048
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	POLR2A	chr16:75291818-75293396	HepG2	liver:	n/a	n/a
2	ZNF263	chr16:75292644-75293137	HEK293-T-REx	kidney:	n/a	chr16:75292862-75292871 chr16:75292865-75292874 chr16:75292856-75292865 chr16:75292859-75292868 chr16:75293063-75293072 chr16:75292857-75292878
3	GATA3	chr16:75292630-75293376	MCF-7	breast:	n/a	chr16:75292717-75292725
4	NR2F2	chr16:75292689-75293354	MCF-7	breast:	n/a	n/a
5	NFIC	chr16:75292570-75293092	ECC-1	luminal epithelium:	n/a	chr16:75292803-75292820 chr16:75292803-75292819
6	POLR2A	chr16:75292121-75293080	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75291813..75293681-chr16:75338481..75340781,2	MCF-7	breast:
2	chr16:75290897..75293709-chr16:75420736..75422960,2	K562	blood:
3	chr16:75290787..75293360-chr16:75358272..75360844,2	K562	blood:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000259999	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11645408	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11647214	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12932495	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1469121	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784938	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4888367	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	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
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer 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 target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	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
16	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
17	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75285600-75293200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:75286000-75293200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr16:75286000-75293200	Enhancers	Fetal Lung	lung
4	chr16:75286000-75293200	Enhancers	NHDF-Ad	bronchial
5	chr16:75286000-75293400	Enhancers	HMEC	breast
6	chr16:75286000-75297400	Enhancers	Psoas Muscle	Psoas
7	chr16:75286000-75297600	Genic enhancers	Fetal Intestine Small	intestine
8	chr16:75286000-75298000	Genic enhancers	Fetal Stomach	stomach
9	chr16:75286200-75293200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr16:75286200-75293200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:75286200-75293200	Enhancers	Fetal Heart	heart
12	chr16:75286200-75293400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr16:75286400-75293200	Enhancers	Brain Anterior Caudate	brain
14	chr16:75286600-75293400	Enhancers	Spleen	Spleen
15	chr16:75287600-75293200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:75288200-75293200	Enhancers	Placenta	Placenta
17	chr16:75288400-75293200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr16:75289000-75297400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr16:75289200-75298600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:75289400-75295000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:75289800-75293200	Enhancers	Brain Angular Gyrus	brain
22	chr16:75289800-75293200	Enhancers	Brain Hippocampus Middle	brain
23	chr16:75289800-75293200	Enhancers	Colon Smooth Muscle	Colon
24	chr16:75289800-75293400	Enhancers	Pancreas	Pancrea
25	chr16:75290000-75293200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:75290000-75293400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:75290000-75293600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:75290000-75297800	Weak transcription	Fetal Kidney	kidney
29	chr16:75290200-75293200	Enhancers	HUVEC	blood vessel
30	chr16:75290200-75295800	Weak transcription	Small Intestine	intestine
31	chr16:75290400-75293200	Enhancers	Fetal Brain Male	brain
32	chr16:75290400-75293400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:75290600-75293200	Enhancers	Adipose Nuclei	Adipose
34	chr16:75290800-75293200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr16:75290800-75294600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:75291000-75293200	Enhancers	Rectal Smooth Muscle	rectum
37	chr16:75291000-75293400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:75291000-75293600	Enhancers	Fetal Muscle Trunk	muscle
39	chr16:75291000-75295000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:75291000-75295400	Weak transcription	Aorta	Aorta
41	chr16:75291000-75295400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr16:75291200-75293400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:75291200-75295400	Weak transcription	A549	lung
44	chr16:75291400-75293200	Enhancers	Brain Cingulate Gyrus	brain
45	chr16:75291400-75293200	Genic enhancers	NHLF	lung
46	chr16:75291600-75295800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:75292000-75293200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr16:75292000-75293400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:75292000-75293400	Genic enhancers	HepG2	liver
50	chr16:75292000-75294600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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