Variant report

Variant	rs199813375
Chromosome Location	chr16:75277391-75277392
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	chr16:75276865-75287749	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:75277156-75286603	IMR90	lung:	n/a	n/a
3	POLR2A	chr16:75277186-75286167	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75258215..75260449-chr16:75277050..75278735,2	K562	blood:
2	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
3	chr16:75271644..75278130-chr16:75410170..75415316,7	MCF-7	breast:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000240338	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000261783	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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
19	nsv9459	chr16:75274167-75277500	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv978002	chr16:75274402-75288324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
21	esv3337404	chr16:75277285-75277834	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
2	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:75268600-75277800	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:75269600-75280600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:75270400-75278400	Genic enhancers	Fetal Muscle Leg	muscle
7	chr16:75270400-75278800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:75271200-75278000	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr16:75271800-75278200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:75272800-75278800	Genic enhancers	Gastric	stomach
11	chr16:75273400-75277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:75273400-75277600	Strong transcription	Fetal Intestine Large	intestine
13	chr16:75273400-75277800	Weak transcription	Fetal Thymus	thymus
14	chr16:75273400-75278000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr16:75273600-75277600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:75273800-75277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:75273800-75277600	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr16:75274000-75277400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:75274000-75277400	Strong transcription	Liver	Liver
20	chr16:75274000-75277400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr16:75274000-75277600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr16:75274000-75277800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr16:75274000-75278600	Genic enhancers	NHLF	lung
24	chr16:75274200-75277600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:75274200-75277600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:75274200-75277600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:75274200-75277800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr16:75274200-75278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:75274200-75278200	Genic enhancers	HepG2	liver
30	chr16:75274400-75277400	Strong transcription	A549	lung
31	chr16:75274400-75277400	Strong transcription	Osteobl	bone
32	chr16:75274400-75277600	Strong transcription	Colonic Mucosa	Colon
33	chr16:75274400-75277600	Genic enhancers	HMEC	breast
34	chr16:75274600-75277400	Genic enhancers	Brain Cingulate Gyrus	brain
35	chr16:75274600-75277600	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr16:75274800-75277400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr16:75274800-75277400	Genic enhancers	Stomach Mucosa	stomach
38	chr16:75274800-75278000	Strong transcription	NHEK	skin
39	chr16:75275000-75277600	Weak transcription	Psoas Muscle	Psoas
40	chr16:75275200-75277600	Strong transcription	Lung	lung
41	chr16:75275200-75277600	Weak transcription	Right Atrium	heart
42	chr16:75275200-75278000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:75275400-75277600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:75275400-75278600	Weak transcription	Fetal Kidney	kidney
45	chr16:75275600-75277400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr16:75275600-75277400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:75275800-75277600	Weak transcription	Fetal Lung	lung
48	chr16:75275800-75277600	Strong transcription	Placenta	Placenta
49	chr16:75275800-75278000	Weak transcription	Fetal Brain Male	brain
50	chr16:75276000-75278600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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