Variant report

Variant	rs28735175
Chromosome Location	chr16:31090452-31090453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr16:31090334-31091455	NB4	blood:	n/a	chr16:31091053-31091063
2	POLR2A	chr16:31090371-31090581	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:31090393-31091480	PBDE	blood:	n/a	n/a
4	POLR2A	chr16:31090347-31091057	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr16:31090186-31091791	HL-60	blood:	n/a	n/a
6	POLR2A	chr16:31089824-31095519	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:31090383-31090475	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr16:31090292-31091728	GM12892	blood:	n/a	n/a
9	POLR2A	chr16:31089861-31090621	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:31090253-31090996	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:31090259-31091066	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:31090337-31090902	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:31089934-31091097	K562	blood:	n/a	n/a
14	POLR2A	chr16:31088254-31090781	K562	blood:	n/a	n/a
15	POLR2A	chr16:31089915-31091267	U87	brain:	n/a	n/a
16	POLR2A	chr16:31088971-31098346	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr16:31089740-31092485	GM12878	blood:	n/a	n/a
18	MAX	chr16:31090291-31091399	NB4	blood:	n/a	chr16:31091053-31091063
19	POLR2A	chr16:31090330-31090779	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:31089858-31091273	U87	brain:	n/a	n/a
21	ZNF263	chr16:31090162-31090521	HEK293-T-REx	kidney:	n/a	n/a
22	POLR2A	chr16:31090030-31094784	HL-60	blood:	n/a	n/a
23	POLR2A	chr16:31090420-31090619	U87	brain:	n/a	n/a
24	POLR2A	chr16:31090041-31091167	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr16:31089839-31094494	K562	blood:	n/a	n/a
26	POLR2A	chr16:31090195-31091059	GM12892	blood:	n/a	n/a
27	POLR2A	chr16:31090341-31091476	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31087818..31090792-chr16:31123412..31125216,2	MCF-7	breast:
2	chr16:30995095..30997179-chr16:31088575..31091751,4	MCF-7	breast:
3	chr16:31088446..31092085-chr16:31188490..31191515,3	K562	blood:
4	chr16:31089101..31091709-chr16:31454244..31455871,2	K562	blood:
5	chr16:31083873..31090665-chr16:31187351..31192875,15	MCF-7	breast:
6	chr16:30967737..30970640-chr16:31089568..31092427,3	K562	blood:

No data

Variant related genes	Relation type
ZNF668	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000176723	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13336384	1.00[AFR][1000 genomes]
rs1549294	1.00[AMR][1000 genomes]
rs28407985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28581887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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 miRNA target site	202 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31086400-31092400	Weak transcription	Small Intestine	intestine
2	chr16:31086400-31104400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:31086600-31091000	Weak transcription	Psoas Muscle	Psoas
4	chr16:31086600-31104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:31086600-31105200	Weak transcription	Right Atrium	heart
6	chr16:31086800-31093000	Weak transcription	Fetal Heart	heart
7	chr16:31087200-31090800	Strong transcription	Primary B cells from cord blood	blood
8	chr16:31087200-31092800	Strong transcription	Brain Substantia Nigra	brain
9	chr16:31087200-31093000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr16:31087200-31093200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr16:31087200-31093400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr16:31087200-31095800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:31087200-31097000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:31087200-31102000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:31087200-31103800	Strong transcription	NHLF	lung
16	chr16:31087200-31104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:31087400-31090600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:31087400-31090600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:31087400-31091200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:31087400-31091200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:31087400-31092400	Strong transcription	Fetal Brain Female	brain
22	chr16:31087400-31092600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:31087400-31093000	Strong transcription	Brain Anterior Caudate	brain
24	chr16:31087400-31093000	Strong transcription	Brain Cingulate Gyrus	brain
25	chr16:31087400-31093000	Strong transcription	Brain Hippocampus Middle	brain
26	chr16:31087400-31093200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr16:31087400-31093200	Weak transcription	Stomach Mucosa	stomach
28	chr16:31087400-31093400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr16:31087400-31095400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr16:31087400-31095600	Strong transcription	Osteobl	bone
31	chr16:31087400-31096000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:31087400-31099200	Strong transcription	HepG2	liver
33	chr16:31087400-31101800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:31087400-31102800	Strong transcription	Thymus	Thymus
35	chr16:31087400-31103000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:31087400-31104400	Strong transcription	Primary T cells from cord blood	blood
37	chr16:31087400-31104400	Strong transcription	Fetal Intestine Small	intestine
38	chr16:31087600-31090600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr16:31087600-31090800	Strong transcription	A549	lung
40	chr16:31087600-31092000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:31087600-31092600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr16:31087600-31092600	Strong transcription	Rectal Smooth Muscle	rectum
43	chr16:31087600-31092800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:31087600-31093000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:31087600-31093000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr16:31087600-31093000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:31087600-31093000	Strong transcription	Adipose Nuclei	Adipose
48	chr16:31087600-31093000	Strong transcription	Brain Angular Gyrus	brain
49	chr16:31087600-31093000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr16:31087600-31093400	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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