Variant report

Variant	rs9923138
Chromosome Location	chr16:31128876-31128877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:455)
CpG islands
(count:122)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr16:31128791-31129028	K562	blood:	n/a	n/a
2	ELF1	chr16:31128829-31129165	A549	lung:	n/a	chr16:31129148-31129161
3	HCFC1	chr16:31128541-31130238	Hela-S3	cervix:	n/a	n/a
4	MYC	chr16:31128660-31129546	K562	blood:	n/a	n/a
5	MAZ	chr16:31128664-31129738	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr16:31128731-31129290	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:31128625-31129576	GM18505	blood:	n/a	n/a
8	POLR2A	chr16:31128655-31129132	GM12891	blood:	n/a	n/a
9	FOSL2	chr16:31128650-31128889	A549	lung:	n/a	chr16:31128738-31128746 chr16:31128737-31128747 chr16:31128739-31128746
10	POLR2A	chr16:31128421-31129857	ProgFib	skin:	n/a	n/a
11	TAF1	chr16:31128613-31129629	ECC-1	luminal epithelium:	n/a	n/a
12	CHD2	chr16:31128734-31129475	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:31128707-31129231	HepG2	liver:	n/a	n/a
14	MAX	chr16:31128638-31129537	NB4	blood:	n/a	n/a
15	TAF1	chr16:31128652-31129503	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:31128742-31129703	HepG2	liver:	n/a	n/a
17	TBP	chr16:31128619-31129075	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr16:31128596-31129663	K562	blood:	n/a	n/a
19	POLR2A	chr16:31128575-31129959	H1-neurons	neurons:	n/a	n/a
20	CTCF	chr16:31128740-31128890	HCPEpiC	choroid plexus:	n/a	n/a
21	POLR2A	chr16:31128612-31129556	NB4	blood:	n/a	n/a
22	ELF1	chr16:31128775-31129495	K562	blood:	n/a	chr16:31129148-31129161
23	ZNF143	chr16:31128765-31129115	K562	blood:	n/a	n/a
24	EGR1	chr16:31128759-31129465	K562	blood:	n/a	n/a
25	SPI1	chr16:31128839-31129052	K562	blood:	n/a	n/a
26	SREBP1	chr16:31128533-31129258	GM12878	blood:	n/a	n/a
27	EGR1	chr16:31128867-31129155	GM12878	blood:	n/a	n/a
28	YY1	chr16:31128699-31129256	SK-N-SH_RA	brain:	n/a	chr16:31128855-31128869 chr16:31128853-31128864 chr16:31128855-31128864
29	NFYA	chr16:31128706-31129487	Hela-S3	cervix:	n/a	chr16:31128873-31128891 chr16:31128873-31128888
30	E2F6	chr16:31128726-31129042	K562	blood:	n/a	n/a
31	ELK1	chr16:31128747-31129630	K562	blood:	n/a	n/a
32	HEY1	chr16:31128641-31129259	K562	blood:	n/a	n/a
33	SP1	chr16:31128660-31129074	GM12878	blood:	n/a	chr16:31128903-31128917 chr16:31128902-31128914 chr16:31128903-31128912 chr16:31128903-31128913 chr16:31128902-31128914 chr16:31128925-31128934 chr16:31128904-31128913
34	TCF3	chr16:31128847-31129302	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr16:31128650-31129215	K562	blood:	n/a	n/a
36	CREB1	chr16:31128557-31129791	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:31128534-31129977	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:31128702-31129279	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr16:31128441-31130122	U87	brain:	n/a	n/a
40	ZNF384	chr16:31128738-31129165	K562	blood:	n/a	n/a
41	ZMIZ1	chr16:31128722-31129540	K562	blood:	n/a	n/a
42	POLR2A	chr16:31128611-31129733	Hela-S3	cervix:	n/a	n/a
43	ETS1	chr16:31128701-31129200	GM12878	blood:	n/a	n/a
44	NFIC	chr16:31128646-31129220	GM12878	blood:	n/a	chr16:31128943-31128959
45	POLR2A	chr16:31128276-31129589	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr16:31128593-31129679	GM12892	blood:	n/a	n/a
47	JUND	chr16:31128628-31129652	K562	blood:	n/a	chr16:31128738-31128746 chr16:31128737-31128747 chr16:31128739-31128746
48	YY1	chr16:31128701-31129529	HepG2	liver:	n/a	chr16:31128855-31128869 chr16:31128853-31128864 chr16:31128855-31128864
49	TAF1	chr16:31128709-31129165	GM12878	blood:	n/a	n/a
50	EP300	chr16:31128750-31129769	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31128858-31128908	AG09319	gingival:	n/a
2	chr16:31128860-31128910	AG04450	lung:	fetal
3	chr16:31128860-31128910	HRCEpiC	kidney:	n/a
4	chr16:31128860-31128910	T-47D	breast:	n/a
5	chr16:31128860-31128910	SAEC	small airway:	n/a
6	chr16:31128860-31128910	PrEC	prostate:	n/a
7	chr16:31128858-31128908	RPTEC	kidney:	n/a
8	chr16:31128860-31128910	SK-N-MC	brain:	n/a
9	chr16:31128858-31128908	Hepatocyte	liver:	n/a
10	chr16:31128860-31128910	Jurkat	blood:	n/a
11	chr16:31128860-31128910	HIPEpiC	eye:	n/a
12	chr16:31128858-31128908	HAEpiC	amniotic membrane:	n/a
13	chr16:31128860-31128910	Hepatocyte	liver:	n/a
14	chr16:31128858-31128908	PrEC	prostate:	n/a
15	chr16:31128858-31128908	IMR90	lung:	fetal
16	chr16:31128858-31128908	HMEC	breast:	n/a
17	chr16:31128860-31128910	BJ	skin:	n/a
18	chr16:31128860-31128910	SKMC	muscle:	n/a
19	chr16:31128858-31128908	GM12891	blood:	n/a
20	chr16:31128858-31128908	SKMC	muscle:	n/a
21	chr16:31128860-31128910	U87	brain:	n/a
22	chr16:31128858-31128908	PANC-1	pancreas:	n/a
23	chr16:31128860-31128910	H1-hESC	embryonic stem cell:	embryo
24	chr16:31128858-31128908	BE2_C	brain:	n/a
25	chr16:31128858-31128908	T-47D	breast:	n/a
26	chr16:31128858-31128908	LNCaP	prostate:	n/a
27	chr16:31128860-31128910	LNCaP	prostate:	n/a
28	chr16:31128858-31128908	A549	lung:	n/a
29	chr16:31128860-31128910	HEK293	kidney:	embryo
30	chr16:31128860-31128910	HNPCEpiC	eye:	n/a
31	chr16:31128860-31128910	ECC-1	luminal epithelium:	n/a
32	chr16:31128858-31128908	HCT-116	colon:	n/a
33	chr16:31128858-31128908	AoSMC	blood vessel:	n/a
34	chr16:31128858-31128908	CMK	blood:	n/a
35	chr16:31128860-31128910	GM12878	blood:	n/a
36	chr16:31128858-31128908	AG09309	skin:	n/a
37	chr16:31128860-31128910	ovcar-3	ovarian:	n/a
38	chr16:31128860-31128910	AG09309	skin:	n/a
39	chr16:31128858-31128908	ECC-1	luminal epithelium:	n/a
40	chr16:31128858-31128908	HCM	heart:	n/a
41	chr16:31128858-31128908	Jurkat	blood:	n/a
42	chr16:31128860-31128910	ProgFib	skin:	n/a
43	chr16:31128860-31128910	HUVEC	blood vessel:	n/a
44	chr16:31128858-31128908	Hela-S3	cervix:	n/a
45	chr16:31128860-31128910	HRPEpiC	eye:	n/a
46	chr16:31128860-31128910	MCF-7	breast:	n/a
47	chr16:31128860-31128910	HRE	kidney:	n/a
48	chr16:31128860-31128910	MCF10A-Er-Src	breast:	n/a
49	chr16:31128858-31128908	NH-A	brain:	n/a
50	chr16:31128858-31128908	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:31083069..31087057-chr16:31126898..31130730,7	K562	blood:
2	chr16:31043517..31045569-chr16:31127733..31129312,2	K562	blood:
3	chr16:31128850..31129465-chr22:29279200..29279987,2	Hela-S3	cervix:
4	chr14:24563117..24564009-chr16:31128393..31129183,2	Hela-S3	cervix:
5	chr16:31127491..31131830-chr16:31190393..31192870,6	MCF-7	breast:
6	chr16:31127220..31133615-chr16:31189948..31195209,18	K562	blood:
7	chr16:31127390..31129807-chr16:31225827..31228203,2	MCF-7	breast:
8	chr16:31127569..31130475-chr16:31469319..31471867,2	K562	blood:
9	chr16:31126778..31130864-chr16:31189092..31195209,17	K562	blood:
10	chr16:31083576..31088702-chr16:31125774..31130494,10	K562	blood:
11	chr16:31104440..31108567-chr16:31128079..31131886,5	MCF-7	breast:
12	chr16:31083418..31087298-chr16:31127627..31129856,4	MCF-7	breast:
13	chr16:31128758..31129396-chr19:49121793..49122526,2	Hela-S3	cervix:
14	chr16:31128800..31129649-chr7:54826905..54827602,2	Hela-S3	cervix:
15	chr16:30995808..30998348-chr16:31127575..31129426,3	MCF-7	breast:
16	chr16:31128470..31129334-chr16:31191327..31191916,2	Hela-S3	cervix:
17	chr16:31126872..31130668-chr16:31190197..31195425,8	MCF-7	breast:
18	chr16:31104411..31107220-chr16:31127738..31130777,6	K562	blood:
19	chr16:31104484..31106009-chr16:31127592..31130114,2	MCF-7	breast:
20	chr15:73925747..73926314-chr16:31128661..31129435,2	Hela-S3	cervix:
21	chr16:31128780..31129465-chr22:39916157..39917074,2	Hela-S3	cervix:
22	chr16:31128280..31129161-chr16:31153696..31154318,2	MCF-7	breast:
23	chr16:31127872..31130849-chr16:31201012..31203039,2	K562	blood:
24	chr16:30967350..30969220-chr16:31127239..31129159,2	MCF-7	breast:
25	chr16:31084249..31087581-chr16:31125866..31130783,7	MCF-7	breast:
26	chr16:31127731..31130553-chr16:31195379..31197872,3	K562	blood:
27	chr16:31127430..31129322-chr16:31228259..31230937,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000262766	TF binding region
KAT8	TF binding region
KAT8	CpG island
ENSG00000262766	CpG island
ENSG00000178226	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000128272	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000183579	Chromatin interaction
ENSG00000156642	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000132432	Chromatin interaction
ENSG00000234707	Chromatin interaction
ENSG00000063177	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13336384	0.89[AFR][1000 genomes]
rs1549294	1.00[AMR][1000 genomes]
rs28407985	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28581887	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735175	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
14	nsv905743	chr16:31111064-31129942	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription 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	35 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	chr16:31120800-31129000	Weak transcription	Small Intestine	intestine
2	chr16:31124600-31129000	Weak transcription	Aorta	Aorta
3	chr16:31127600-31129600	Active TSS	K562	blood
4	chr16:31127800-31129400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:31127800-31129600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:31127800-31129600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr16:31127800-31129600	Active TSS	Rectal Smooth Muscle	rectum
8	chr16:31127800-31129600	Active TSS	Hela-S3	cervix
9	chr16:31127800-31129800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:31127800-31129800	Active TSS	A549	lung
11	chr16:31128000-31129400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr16:31128000-31129400	Active TSS	Primary monocytes fromperipheralblood	blood
13	chr16:31128000-31129400	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr16:31128000-31129400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:31128000-31129400	Active TSS	Liver	Liver
16	chr16:31128000-31129400	Enhancers	Fetal Brain Male	brain
17	chr16:31128000-31129600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr16:31128000-31129600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:31128000-31129600	Active TSS	Colonic Mucosa	Colon
20	chr16:31128000-31129600	Active TSS	Fetal Brain Female	brain
21	chr16:31128000-31130200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:31128200-31129000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:31128200-31129400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:31128200-31129400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr16:31128200-31129400	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr16:31128200-31129400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:31128200-31129400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:31128200-31129400	Active TSS	Primary T cells from cord blood	blood
29	chr16:31128200-31129400	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr16:31128200-31129400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr16:31128200-31129400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:31128200-31129400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr16:31128200-31129400	Active TSS	Brain Germinal Matrix	brain
34	chr16:31128200-31129400	Active TSS	Fetal Kidney	kidney
35	chr16:31128200-31129400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr16:31128200-31129400	Active TSS	HSMM	muscle
37	chr16:31128200-31129400	Active TSS	Osteobl	bone
38	chr16:31128200-31129600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr16:31128200-31129600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:31128200-31129600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:31128200-31129600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:31128200-31129600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr16:31128200-31129600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:31128200-31129600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:31128200-31129600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:31128200-31129600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:31128200-31129600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:31128200-31129600	Active TSS	Colon Smooth Muscle	Colon
49	chr16:31128200-31129600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr16:31128200-31129600	Active TSS	Fetal Intestine Large	intestine

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