Variant report

Variant	rs8048593
Chromosome Location	chr16:30964309-30964310
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30964265-30965634	HL-60	blood:	n/a	n/a
2	CTCF	chr16:30964300-30964450	GM12872	blood:	n/a	n/a
3	CTCF	chr16:30964300-30964450	AG09319	gingival:	n/a	n/a
4	CTCF	chr16:30964173-30965538	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr16:30964147-30964636	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr16:30959379-30970112	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:30964274-30966569	K562	blood:	n/a	n/a
8	POLR2A	chr16:30964284-30964819	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:30964230-30965640	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr16:30964198-30964656	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:30964201-30966539	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30962472..30964372-chr16:31462988..31464590,2	MCF-7	breast:
2	chr16:30886216..30887952-chr16:30961810..30964409,2	MCF-7	breast:
3	chr16:30963425..30965140-chr16:30986397..30989206,2	MCF-7	breast:
4	chr16:30785797..30787464-chr16:30963811..30966272,2	MCF-7	breast:
5	chr16:30963607..30965325-chr16:31200417..31202321,2	K562	blood:
6	chr16:30937188..30939458-chr16:30962868..30965348,2	MCF-7	breast:
7	chr16:30963980..30966724-chr16:31193195..31195415,2	K562	blood:
8	chr16:30932292..30934682-chr16:30962969..30965851,2	MCF-7	breast:
9	chr16:30963767..30965339-chr16:31164383..31165945,2	K562	blood:
10	chr16:30962863..30964861-chr16:31468267..31470819,2	K562	blood:
11	chr16:30953254..30955374-chr16:30963560..30966180,2	MCF-7	breast:
12	chr16:30958395..30965480-chr16:31189619..31195213,11	K562	blood:
13	chr16:30934102..30936150-chr16:30963527..30965846,2	K562	blood:
14	chr16:30952069..30953798-chr16:30963474..30966133,2	MCF-7	breast:
15	chr16:30912898..30915035-chr16:30962438..30965039,2	MCF-7	breast:

No data

Variant related genes	Relation type
SETD1A	TF binding region
ENSG00000140691	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000265991	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12102485	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13333418	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1870292	0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572417	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34212827	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4405566	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184263	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203711	0.80[YRI][hapmap]
rs73526635	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526645	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050229	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8055067	0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061920	0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062731	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929927	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940894	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	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
5	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
6	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
7	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	112 gene(s)	inside rSNPs	diseases
8	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
9	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription 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	95 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	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
18	nsv482192	chr16:30960405-30966258	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	n/a
19	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30961800-30964400	Weak transcription	Brain Substantia Nigra	brain
2	chr16:30961800-30964600	Enhancers	Colon Smooth Muscle	Colon
3	chr16:30962000-30964400	Weak transcription	A549	lung
4	chr16:30962000-30964600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr16:30962000-30964800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:30962000-30965000	Weak transcription	NH-A	brain
7	chr16:30962000-30967800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:30962000-30968000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:30962000-30968000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr16:30962000-30968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:30962000-30968000	Weak transcription	HSMM	muscle
12	chr16:30962200-30964600	Weak transcription	Brain Angular Gyrus	brain
13	chr16:30962200-30964600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:30962200-30964800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:30962200-30964800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:30962200-30964800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:30962200-30964800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:30962200-30965200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:30962200-30965200	Weak transcription	HUVEC	blood vessel
20	chr16:30962200-30965800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr16:30962200-30968000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:30962200-30968000	Weak transcription	Psoas Muscle	Psoas
23	chr16:30962400-30964400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:30962400-30964400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr16:30962400-30964400	Weak transcription	Right Ventricle	heart
26	chr16:30962400-30964600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:30962400-30964600	Weak transcription	Colonic Mucosa	Colon
28	chr16:30962400-30964800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:30962400-30964800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:30962400-30964800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:30962400-30964800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:30962400-30964800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:30962400-30965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr16:30962400-30965000	Weak transcription	Stomach Mucosa	stomach
35	chr16:30962400-30965000	Genic enhancers	K562	blood
36	chr16:30962400-30965200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:30962400-30965600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr16:30962400-30967600	Weak transcription	Dnd41	blood
39	chr16:30962400-30968000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr16:30962400-30968000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:30962400-30968000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:30962400-30968400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr16:30962600-30964400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr16:30962600-30964400	Weak transcription	Fetal Intestine Large	intestine
45	chr16:30962600-30964400	Weak transcription	GM12878-XiMat	blood
46	chr16:30962600-30964600	Weak transcription	Thymus	Thymus
47	chr16:30962600-30964800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr16:30962600-30965000	Weak transcription	Brain Hippocampus Middle	brain
49	chr16:30962600-30965200	Weak transcription	Primary B cells from cord blood	blood
50	chr16:30962600-30965200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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