Variant report

Variant	rs143087807
Chromosome Location	chr16:30406163-30406164
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr16:30405653-30407431	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:30405722-30406902	SK-N-SH	brain:	n/a	n/a
3	MAX	chr16:30405823-30406209	K562	blood:	n/a	n/a
4	POLR2A	chr16:30405751-30406174	PBDE	blood:	n/a	n/a
5	CEBPD	chr16:30405849-30406230	K562	blood:	n/a	n/a
6	HEY1	chr16:30405824-30406178	HepG2	liver:	n/a	n/a
7	UBTF	chr16:30405890-30407417	K562	blood:	n/a	n/a
8	ZMIZ1	chr16:30406009-30406218	K562	blood:	n/a	n/a
9	MAX	chr16:30406157-30407332	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr16:30404889-30406276	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr16:30406070-30407170	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr16:30405528-30407907	H1-neurons	neurons:	n/a	n/a
13	JUND	chr16:30405911-30406163	K562	blood:	n/a	chr16:30406130-30406138 chr16:30406128-30406139
14	POLR2A	chr16:30406123-30407447	ProgFib	skin:	n/a	n/a
15	NR2F2	chr16:30405545-30406324	K562	blood:	n/a	n/a
16	TAF1	chr16:30405841-30406264	K562	blood:	n/a	n/a
17	MTA3	chr16:30405729-30406203	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:30405917-30406953	K562	blood:	n/a	n/a
19	POLR2A	chr16:30405610-30407554	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:30405682-30407399	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr16:30405106-30408009	H1-neurons	neurons:	n/a	chr16:30406917-30406930 chr16:30406091-30406100
22	MXI1	chr16:30405086-30408046	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr16:30405811-30406219	K562	blood:	n/a	n/a
24	POLR2A	chr16:30406095-30406285	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:30405962-30407431	MCF-7	breast:	n/a	n/a
26	POLR2A	chr16:30406021-30407487	PFSK-1	brain:	n/a	n/a
27	TCF12	chr16:30405403-30407473	A549	lung:	n/a	chr16:30406926-30406936
28	TAF1	chr16:30405391-30406855	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr16:30405320-30406966	SK-N-SH	brain:	n/a	n/a
30	MAX	chr16:30405596-30407549	HepG2	liver:	n/a	n/a
31	HEY1	chr16:30405805-30406244	K562	blood:	n/a	n/a
32	SIN3A	chr16:30406057-30407682	H1-hESC	embryonic stem cell:	n/a	chr16:30407022-30407033 chr16:30406255-30406268 chr16:30407035-30407046 chr16:30406091-30406104 chr16:30406909-30406920
33	POLR2A	chr16:30405456-30407669	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr16:30405634-30407128	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr16:30405842-30407316	K562	blood:	n/a	n/a
36	POLR2A	chr16:30405716-30406822	IMR90	lung:	n/a	n/a
37	RAD21	chr16:30405932-30407168	IMR90	lung:	n/a	chr16:30407025-30407037 chr16:30407025-30407035 chr16:30407023-30407036 chr16:30407020-30407039
38	TBP	chr16:30405803-30407373	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr16:30404861-30407531	HepG2	liver:	n/a	n/a
40	POLR2A	chr16:30405707-30407343	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZBTB7A	chr16:30406157-30407580	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr16:30405790-30406252	K562	blood:	n/a	n/a
43	POLR2A	chr16:30405559-30407735	H1-neurons	neurons:	n/a	n/a
44	HEY1	chr16:30405822-30406247	K562	blood:	n/a	n/a
45	MAZ	chr16:30405531-30407619	IMR90	lung:	n/a	n/a
46	MAZ	chr16:30405948-30406165	K562	blood:	n/a	n/a
47	TBP	chr16:30405862-30406206	K562	blood:	n/a	n/a
48	TAF1	chr16:30405756-30406275	H1-hESC	embryonic stem cell:	n/a	n/a
49	TBL1XR1	chr16:30405893-30406186	K562	blood:	n/a	n/a
50	POLR2A	chr16:30405720-30406227	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30406122-30406172	LNCaP	prostate:	n/a
2	chr16:30406122-30406172	HMEC	breast:	n/a
3	chr16:30406122-30406172	Hela-S3	cervix:	n/a
4	chr16:30406122-30406172	CMK	blood:	n/a
5	chr16:30406122-30406172	ProgFib	skin:	n/a
6	chr16:30406122-30406172	HPAEpiC	pulmonary alveolar:	n/a
7	chr16:30406122-30406172	SAEC	small airway:	n/a
8	chr16:30406122-30406172	NHBE	bronchial:	n/a
9	chr16:30406122-30406172	MCF10A-Er-Src	breast:	n/a
10	chr16:30406122-30406172	HCT-116	colon:	n/a
11	chr16:30406122-30406172	AoSMC	blood vessel:	n/a
12	chr16:30406122-30406172	NT2-D1	testis:	n/a
13	chr16:30406122-30406172	NHDF-neo	bronchial:	n/a
14	chr16:30406122-30406172	HIPEpiC	eye:	n/a
15	chr16:30406122-30406172	ECC-1	luminal epithelium:	n/a
16	chr16:30406122-30406172	HCPEpiC	choroid plexus:	n/a
17	chr16:30406122-30406172	SK-N-SH_RA	brain:	n/a
18	chr16:30406122-30406172	Hepatocyte	liver:	n/a
19	chr16:30406122-30406172	HAEpiC	amniotic membrane:	n/a
20	chr16:30406122-30406172	RPTEC	kidney:	n/a
21	chr16:30406122-30406172	Caco-2	colon:	n/a
22	chr16:30406122-30406172	BE2_C	brain:	n/a
23	chr16:30406122-30406172	HRPEpiC	eye:	n/a
24	chr16:30406122-30406172	BJ	skin:	n/a
25	chr16:30406122-30406172	NH-A	brain:	n/a
26	chr16:30406122-30406172	AG09319	gingival:	n/a
27	chr16:30406122-30406172	HNPCEpiC	eye:	n/a
28	chr16:30406122-30406172	GM12878	blood:	n/a
29	chr16:30406122-30406172	PrEC	prostate:	n/a
30	chr16:30406122-30406172	HL-60	blood:	n/a
31	chr16:30406122-30406172	H1-hESC	embryonic stem cell:	embryo
32	chr16:30406122-30406172	MCF-7	breast:	n/a
33	chr16:30406122-30406172	K562	blood:	n/a
34	chr16:30406122-30406172	HRCEpiC	kidney:	n/a
35	chr16:30406122-30406172	SK-N-SH	brain:	n/a
36	chr16:30406122-30406172	AG04450	lung:	fetal
37	chr16:30406122-30406172	HCF	heart:	n/a
38	chr16:30406122-30406172	HUVEC	blood vessel:	n/a
39	chr16:30406122-30406172	HCM	heart:	n/a
40	chr16:30406122-30406172	GM06990	blood:	n/a
41	chr16:30406122-30406172	HEK293	kidney:	embryo
42	chr16:30406122-30406172	Jurkat	blood:	n/a
43	chr16:30406122-30406172	GM19239	blood:	n/a
44	chr16:30406122-30406172	U87	brain:	n/a
45	chr16:30406122-30406172	AG09309	skin:	n/a
46	chr16:30406122-30406172	GM12892	blood:	n/a
47	chr16:30406122-30406172	GM12891	blood:	n/a
48	chr16:30406122-30406172	HEEpiC	esophagus:	n/a
49	chr16:30406122-30406172	ovcar-3	ovarian:	n/a
50	chr16:30406122-30406172	IMR90	lung:	fetal

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30374634..30377122-chr16:30405649..30407903,2	K562	blood:
2	chr16:30405548..30408419-chr16:30620470..30622922,2	MCF-7	breast:
3	chr16:30077266..30078952-chr16:30405580..30407147,2	MCF-7	breast:
4	chr16:30404931..30406633-chr16:30670446..30672250,2	MCF-7	breast:
5	chr16:30405344..30408453-chr16:30439632..30442076,3	MCF-7	breast:
6	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
7	chr16:30385968..30392864-chr16:30403786..30414800,30	MCF-7	breast:
8	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
9	chr16:30393486..30397071-chr16:30402673..30407150,6	MCF-7	breast:
10	chr16:30405223..30408007-chr16:30567849..30569998,3	MCF-7	breast:
11	chr16:30405261..30407569-chr16:30455597..30457105,2	MCF-7	breast:
12	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
13	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
14	chr16:30406017..30408531-chr16:30454989..30457376,2	MCF-7	breast:
15	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
16	chr16:30405726..30407812-chr16:30662378..30664163,2	K562	blood:
17	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:
18	chr16:30380765..30382933-chr16:30403703..30406768,3	K562	blood:
19	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
20	chr16:30384243..30394929-chr16:30405602..30409736,14	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D10B-1	chr16:30405867-30406224	NONHSAT141745

No data

Variant related genes	Relation type
ZNF48	TF binding region
ZNF48	CpG island
ENSG00000260869	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000270466	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000156858	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking 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	37 gene(s)	inside rSNPs	diseases
9	nsv1782	chr16:30391812-30410266	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv3325798	chr16:30405476-30408024	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30405000-30407400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:30405000-30407600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30405400-30406200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr16:30405400-30406200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:30405400-30406200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:30405400-30406200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr16:30405400-30406200	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr16:30405400-30406200	Flanking Active TSS	Fetal Thymus	thymus
9	chr16:30405400-30406200	Flanking Active TSS	NH-A	brain
10	chr16:30405400-30406400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:30405400-30407600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:30405400-30407800	Active TSS	Fetal Kidney	kidney
13	chr16:30405600-30406200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr16:30405600-30406200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr16:30405600-30406200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr16:30405600-30406200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:30405600-30406200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr16:30405600-30406200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr16:30405600-30406200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr16:30405600-30406200	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr16:30405600-30406200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr16:30405600-30406200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr16:30405600-30406200	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr16:30405600-30406200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr16:30405600-30406200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr16:30405600-30406200	Enhancers	Stomach Mucosa	stomach
27	chr16:30405600-30406200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr16:30405600-30406200	Flanking Active TSS	Dnd41	blood
29	chr16:30405600-30406200	Flanking Active TSS	HUVEC	blood vessel
30	chr16:30405600-30406200	Flanking Active TSS	K562	blood
31	chr16:30405600-30406200	Flanking Active TSS	Osteobl	bone
32	chr16:30405600-30406400	Enhancers	Spleen	Spleen
33	chr16:30405600-30406600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:30405600-30407000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:30405600-30407200	Active TSS	Colonic Mucosa	Colon
36	chr16:30405600-30407400	Active TSS	Hela-S3	cervix
37	chr16:30405600-30407600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:30405600-30407800	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr16:30405600-30407800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:30405800-30406200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:30405800-30406200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr16:30405800-30406200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr16:30405800-30406200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr16:30405800-30406200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:30405800-30406200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr16:30405800-30406200	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr16:30405800-30406200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr16:30405800-30406200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr16:30405800-30406200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:30405800-30406200	Flanking Active TSS	Rectal Smooth Muscle	rectum

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