Variant report

Variant	rs34480360
Chromosome Location	chr16:30798689-30798690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF7	chr16:30798257-30798765	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr16:30798215-30799128	HCT-116	colon:	n/a	n/a
3	MAFK	chr16:30798493-30798743	K562	blood:	n/a	n/a
4	ELF1	chr16:30798289-30798814	A549	lung:	n/a	n/a
5	KAP1	chr16:30798418-30799522	HEK293	kidney:	n/a	n/a
6	HCFC1	chr16:30798375-30798748	K562	blood:	n/a	n/a
7	SIX5	chr16:30798224-30798882	A549	lung:	n/a	n/a
8	MAX	chr16:30798327-30798899	SK-N-SH	brain:	n/a	n/a
9	MYC	chr16:30798366-30798726	HepG2	liver:	n/a	n/a
10	TAF1	chr16:30798217-30799005	SK-N-SH	brain:	n/a	n/a
11	HEY1	chr16:30798202-30799769	HepG2	liver:	n/a	chr16:30798228-30798243
12	POLR2A	chr16:30798214-30798731	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr16:30798224-30798876	HCT-116	colon:	n/a	n/a
14	MAFK	chr16:30798436-30798694	HepG2	liver:	n/a	n/a
15	CHD2	chr16:30798365-30798765	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr16:30798204-30799188	HepG2	liver:	n/a	chr16:30798909-30798918 chr16:30798849-30798860 chr16:30798758-30798772
17	POLR2A	chr16:30798343-30799007	ProgFib	skin:	n/a	n/a
18	ZBTB7A	chr16:30798306-30798710	HepG2	liver:	n/a	n/a
19	YY1	chr16:30798188-30798707	K562	blood:	n/a	n/a
20	POLR2A	chr16:30798335-30798756	A549	lung:	n/a	n/a
21	CCNT2	chr16:30798592-30798792	K562	blood:	n/a	n/a
22	EGR1	chr16:30798301-30798762	H1-hESC	embryonic stem cell:	n/a	chr16:30798686-30798696 chr16:30798518-30798527
23	SIN3AK20	chr16:30798317-30798767	A549	lung:	n/a	n/a
24	GABPA	chr16:30798271-30798942	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr16:30797037-30799444	SK-N-SH	brain:	n/a	n/a
26	KAP1	chr16:30798475-30799351	U2OS	brain:	n/a	n/a
27	POLR2A	chr16:30798249-30798713	ECC-1	luminal epithelium:	n/a	n/a
28	MYC	chr16:30798525-30798706	MCF-7	breast:	n/a	n/a
29	RAD21	chr16:30798232-30798788	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr16:30798379-30798820	HepG2	liver:	n/a	n/a
31	TAF1	chr16:30798230-30798731	Hela-S3	cervix:	n/a	n/a
32	ELF1	chr16:30798288-30798846	A549	lung:	n/a	n/a
33	CREB1	chr16:30798316-30798765	A549	lung:	n/a	n/a
34	TAF1	chr16:30798297-30799097	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr16:30798204-30798969	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr16:30797681-30798795	HEK293	kidney:	n/a	n/a
37	SP2	chr16:30798277-30798776	K562	blood:	n/a	n/a
38	REST	chr16:30798234-30798800	HepG2	liver:	n/a	n/a
39	POLR2A	chr16:30798341-30798711	K562	blood:	n/a	n/a
40	MAZ	chr16:30798440-30798699	GM12878	blood:	n/a	n/a
41	SIN3AK20	chr16:30798365-30798700	K562	blood:	n/a	n/a
42	POLR2A	chr16:30798293-30798741	HL-60	blood:	n/a	n/a
43	SIN3A	chr16:30798301-30798753	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZKSCAN1	chr16:30798428-30798696	Hela-S3	cervix:	n/a	n/a
45	ELF1	chr16:30798272-30798767	GM12878	blood:	n/a	n/a
46	SIN3AK20	chr16:30798238-30798743	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr16:30798355-30798788	K562	blood:	n/a	n/a
48	HEY1	chr16:30798303-30798726	K562	blood:	n/a	n/a
49	MAX	chr16:30798322-30798805	A549	lung:	n/a	n/a
50	MYC	chr16:30798362-30798724	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30797838..30800327-chr16:30905685..30908528,2	K562	blood:
2	chr16:30795105..30800041-chr16:30931976..30937405,9	MCF-7	breast:
3	chr16:30796419..30799477-chr16:30959308..30961978,4	MCF-7	breast:
4	chr16:30795079..30800045-chr16:30885501..30888825,9	MCF-7	breast:
5	chr16:30797763..30800233-chr16:31019158..31021994,2	K562	blood:
6	chr16:30796173..30799338-chr16:30905017..30908309,3	K562	blood:
7	chr16:30759018..30761215-chr16:30796843..30799156,2	MCF-7	breast:
8	chr16:30795368..30800075-chr16:30931111..30935900,11	MCF-7	breast:
9	chr16:30075546..30077450-chr16:30796660..30799648,2	MCF-7	breast:
10	chr16:30797882..30798815-chr16:30886401..30887178,2	MCF-7	breast:
11	chr16:30797430..30800037-chr16:30885102..30887908,3	K562	blood:
12	chr16:30706444..30711338-chr16:30796616..30799537,5	MCF-7	breast:
13	chr16:30796561..30800264-chr16:30966265..30969481,3	MCF-7	breast:
14	chr16:30796927..30799573-chr16:30884313..30888213,5	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF629	TF binding region
ENSG00000150281	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000099381	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12447534	0.96[ASN][1000 genomes]
rs13337900	0.81[ASN][1000 genomes]
rs28853644	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3747486	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812999	0.81[ASN][1000 genomes]
rs4889489	0.93[ASN][1000 genomes]
rs4889490	0.81[ASN][1000 genomes]
rs56656810	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62057223	0.90[ASN][1000 genomes]
rs72799316	0.81[ASN][1000 genomes]
rs73524556	0.81[ASN][1000 genomes]
rs8050330	0.81[ASN][1000 genomes]
rs8058961	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9921835	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9933875	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	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
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv9438	chr16:30770203-30799442	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
12	nsv905732	chr16:30788182-30837210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised 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	40 gene(s)	inside rSNPs	diseases
13	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30796600-30798800	Active TSS	Brain Cingulate Gyrus	brain
2	chr16:30797200-30798800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr16:30797200-30799000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr16:30797200-30799000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr16:30797200-30799000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr16:30797200-30799400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr16:30797200-30799400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:30797200-30799400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr16:30797400-30798800	Active TSS	Primary T cells from cord blood	blood
10	chr16:30797400-30799000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr16:30797400-30799000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:30797400-30799000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr16:30797400-30799000	Active TSS	Fetal Kidney	kidney
14	chr16:30797400-30799200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr16:30797400-30799200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr16:30797600-30798800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr16:30797600-30798800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:30797600-30798800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr16:30797600-30798800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr16:30797600-30798800	Active TSS	Lung	lung
21	chr16:30797600-30798800	Active TSS	Right Ventricle	heart
22	chr16:30797600-30798800	Active TSS	A549	lung
23	chr16:30797600-30798800	Active TSS	NHLF	lung
24	chr16:30797600-30799000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:30797600-30799000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:30797600-30799000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:30797600-30799000	Active TSS	Aorta	Aorta
28	chr16:30797600-30799000	Active TSS	Gastric	stomach
29	chr16:30797600-30799000	Active TSS	Left Ventricle	heart
30	chr16:30797600-30799000	Active TSS	Ovary	ovary
31	chr16:30797600-30799000	Active TSS	HSMMtube	muscle
32	chr16:30797600-30799000	Active TSS	NHDF-Ad	bronchial
33	chr16:30797600-30799200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr16:30797600-30799200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:30797600-30799200	Active TSS	Psoas Muscle	Psoas
36	chr16:30797800-30798800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:30797800-30798800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:30797800-30798800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:30797800-30798800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:30797800-30798800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:30797800-30798800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:30797800-30798800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:30797800-30798800	Active TSS	Brain Angular Gyrus	brain
44	chr16:30797800-30798800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr16:30797800-30798800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:30797800-30798800	Active TSS	Duodenum Mucosa	Duodenum
47	chr16:30797800-30798800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr16:30797800-30798800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr16:30797800-30798800	Active TSS	Fetal Brain Male	brain
50	chr16:30797800-30798800	Active TSS	Skeletal Muscle Male	skeletal muscle

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