Variant report

Variant	rs13333401
Chromosome Location	chr16:82045172-82045173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF3	chr16:82044807-82045329	GM12878	blood:	n/a	chr16:82044906-82044916 chr16:82044908-82044921 chr16:82044904-82044918 chr16:82045154-82045168
2	YY1	chr16:82044882-82045454	HCT-116	colon:	n/a	chr16:82044955-82044964
3	ZNF143	chr16:82044584-82045359	GM12878	blood:	n/a	chr16:82044807-82044817
4	TAF1	chr16:82044914-82045188	GM12892	blood:	n/a	n/a
5	ELF1	chr16:82044928-82045251	A549	lung:	n/a	chr16:82045106-82045117 chr16:82045107-82045116 chr16:82045105-82045118
6	POLR2A	chr16:82044767-82045431	GM18526	blood:	n/a	n/a
7	ELF1	chr16:82044528-82045636	HCT-116	colon:	n/a	chr16:82045106-82045117 chr16:82045107-82045116 chr16:82045105-82045118
8	POLR2A	chr16:82044741-82045415	GM12892	blood:	n/a	n/a
9	RCOR1	chr16:82044958-82045268	K562	blood:	n/a	n/a
10	CREB1	chr16:82044898-82045230	A549	lung:	n/a	n/a
11	GABPA	chr16:82044616-82045526	MCF-7	breast:	n/a	n/a
12	TAF1	chr16:82044873-82045255	GM12878	blood:	n/a	n/a
13	ETS1	chr16:82044896-82045315	GM12878	blood:	n/a	chr16:82045106-82045115 chr16:82045106-82045115 chr16:82045103-82045114 chr16:82045104-82045114 chr16:82045104-82045115
14	GABPA	chr16:82044863-82045262	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:82044732-82045371	MCF-7	breast:	n/a	n/a
16	POLR2A	chr16:82044756-82045273	GM18951	blood:	n/a	n/a
17	RUNX3	chr16:82044842-82045353	GM12878	blood:	n/a	n/a
18	MAX	chr16:82044656-82045361	MCF-7	breast:	n/a	n/a
19	POLR2A	chr16:82044652-82045402	GM12892	blood:	n/a	n/a
20	ZEB1	chr16:82044872-82045442	GM12878	blood:	n/a	n/a
21	EGR1	chr16:82045013-82045175	GM12878	blood:	n/a	chr16:82045106-82045115
22	CBX3	chr16:82044941-82045184	K562	blood:	n/a	n/a
23	ELF1	chr16:82044689-82045352	GM12878	blood:	n/a	chr16:82045106-82045117 chr16:82045107-82045116 chr16:82045105-82045118
24	HA-E2F1	chr16:82044609-82045448	MCF-7	breast:	n/a	chr16:82044855-82044867
25	YY1	chr16:82044867-82045267	GM12891	blood:	n/a	chr16:82044955-82044964
26	RUNX3	chr16:82044895-82045208	GM12878	blood:	n/a	n/a
27	GABPA	chr16:82044704-82045352	A549	lung:	n/a	n/a
28	TAF1	chr16:82044877-82045309	GM12892	blood:	n/a	n/a
29	POLR2A	chr16:82044716-82045391	MCF10A-Er-Src	breast:	n/a	n/a
30	MAX	chr16:82044962-82045261	GM12878	blood:	n/a	n/a
31	POLR2A	chr16:82044697-82045398	MCF-7	breast:	n/a	n/a
32	MAX	chr16:82044853-82045321	A549	lung:	n/a	n/a
33	ELK1	chr16:82044869-82045291	GM12878	blood:	n/a	n/a
34	POLR2A	chr16:82044900-82045305	GM12892	blood:	n/a	n/a
35	TCF12	chr16:82044919-82045218	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:82045170-82045180	A549	lung:	n/a	n/a
37	CTCF	chr16:82045060-82045210	SAEC	small airway:	n/a	chr16:82045092-82045105
38	POLR2A	chr16:82044623-82045390	HCT-116	colon:	n/a	n/a
39	SIN3AK20	chr16:82044279-82045485	MCF-7	breast:	n/a	n/a
40	GABPA	chr16:82044769-82045333	K562	blood:	n/a	n/a
41	POLR2A	chr16:82044639-82045375	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr16:82044853-82045291	GM12878	blood:	n/a	n/a
43	MAX	chr16:82044772-82045345	A549	lung:	n/a	n/a
44	POLR2A	chr16:82044739-82045297	GM12878	blood:	n/a	n/a
45	POLR2A	chr16:82044655-82045360	GM18505	blood:	n/a	n/a
46	ELF1	chr16:82044599-82045520	MCF-7	breast:	n/a	chr16:82045106-82045117 chr16:82045107-82045116 chr16:82045105-82045118
47	ZEB1	chr16:82045045-82045252	GM12878	blood:	n/a	n/a
48	MYC	chr16:82044944-82045252	K562	blood:	n/a	n/a
49	POLR2A	chr16:82044832-82045235	MCF-7	breast:	n/a	n/a
50	MAZ	chr16:82044925-82045233	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:82045140-82045190	MCF10A-Er-Src	breast:	n/a
2	chr16:82045140-82045190	PrEC	prostate:	n/a
3	chr16:82045140-82045190	ovcar-3	ovarian:	n/a
4	chr16:82045140-82045190	HCPEpiC	choroid plexus:	n/a
5	chr16:82045140-82045190	HCF	heart:	n/a
6	chr16:82045140-82045190	AG09319	gingival:	n/a
7	chr16:82045140-82045190	A549	lung:	n/a
8	chr16:82045140-82045190	PANC-1	pancreas:	n/a
9	chr16:82045140-82045190	Hepatocyte	liver:	n/a
10	chr16:82045140-82045190	U87	brain:	n/a
11	chr16:82045140-82045190	Jurkat	blood:	n/a
12	chr16:82045140-82045190	BJ	skin:	n/a
13	chr16:82045140-82045190	HIPEpiC	eye:	n/a
14	chr16:82045140-82045190	HEK293	kidney:	embryo
15	chr16:82045140-82045190	SK-N-SH_RA	brain:	n/a
16	chr16:82045140-82045190	HCM	heart:	n/a
17	chr16:82045140-82045190	NHDF-neo	bronchial:	n/a
18	chr16:82045140-82045190	GM12891	blood:	n/a
19	chr16:82045140-82045190	NHBE	bronchial:	n/a
20	chr16:82045140-82045190	GM06990	blood:	n/a
21	chr16:82045140-82045190	HUVEC	blood vessel:	n/a
22	chr16:82045140-82045190	LNCaP	prostate:	n/a
23	chr16:82045140-82045190	SKMC	muscle:	n/a
24	chr16:82045140-82045190	RPTEC	kidney:	n/a
25	chr16:82045140-82045190	HMEC	breast:	n/a
26	chr16:82045140-82045190	GM12892	blood:	n/a
27	chr16:82045140-82045190	HRPEpiC	eye:	n/a
28	chr16:82045140-82045190	HCT-116	colon:	n/a
29	chr16:82045140-82045190	MCF-7	breast:	n/a
30	chr16:82045140-82045190	K562	blood:	n/a
31	chr16:82045140-82045190	HepG2	liver:	n/a
32	chr16:82045140-82045190	SAEC	small airway:	n/a
33	chr16:82045140-82045190	SK-N-SH	brain:	n/a
34	chr16:82045140-82045190	HPAEpiC	pulmonary alveolar:	n/a
35	chr16:82045140-82045190	CMK	blood:	n/a
36	chr16:82045140-82045190	HAEpiC	amniotic membrane:	n/a
37	chr16:82045140-82045190	H1-hESC	embryonic stem cell:	embryo
38	chr16:82045140-82045190	HNPCEpiC	eye:	n/a
39	chr16:82045140-82045190	HRCEpiC	kidney:	n/a
40	chr16:82045140-82045190	PFSK-1	brain:	n/a
41	chr16:82045140-82045190	HEEpiC	esophagus:	n/a
42	chr16:82045140-82045190	T-47D	breast:	n/a
43	chr16:82045140-82045190	ProgFib	skin:	n/a
44	chr16:82045140-82045190	HRE	kidney:	n/a
45	chr16:82045140-82045190	GM12878	blood:	n/a
46	chr16:82045140-82045190	GM19239	blood:	n/a
47	chr16:82045140-82045190	AG04449	skin:	fetal
48	chr16:82045140-82045190	AoSMC	blood vessel:	n/a
49	chr16:82045140-82045190	Caco-2	colon:	n/a
50	chr16:82045140-82045190	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82044521..82045314-chr3:149470159..149470736,2	HCT-116	colon:
2	chr1:45186606..45187940-chr16:82044607..82045675,4	HCT-116	colon:

Variant related genes	Relation type
SDR42E1	TF binding region
SDR42E1	CpG island
ENSG00000114744	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11859929	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11862886	0.82[AFR][1000 genomes]
rs12102588	1.00[EUR][1000 genomes]
rs13331078	1.00[EUR][1000 genomes]
rs13336862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338881	1.00[EUR][1000 genomes]
rs16956212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435702	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28593579	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666081	1.00[EUR][1000 genomes]
rs28676286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28709269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4399528	0.83[AMR][1000 genomes]
rs7187542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194931	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926028	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926471	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937619	1.00[EUR][1000 genomes]
rs9941115	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82044000-82045400	Active TSS	Fetal Intestine Small	intestine
2	chr16:82044200-82045200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:82044200-82045200	Active TSS	Fetal Thymus	thymus
4	chr16:82044200-82045200	Active TSS	K562	blood
5	chr16:82044200-82045400	Active TSS	Fetal Intestine Large	intestine
6	chr16:82044200-82045400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr16:82044200-82045600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:82044200-82045600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:82044200-82045600	Active TSS	Fetal Kidney	kidney
10	chr16:82044200-82045600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr16:82044200-82045600	ZNF genes & repeats	GM12878-XiMat	blood
12	chr16:82044400-82045200	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr16:82044400-82045200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr16:82044400-82045200	Active TSS	Colonic Mucosa	Colon
15	chr16:82044400-82045200	Active TSS	Esophagus	oesophagus
16	chr16:82044400-82045200	Active TSS	HMEC	breast
17	chr16:82044400-82045200	Active TSS	NHEK	skin
18	chr16:82044400-82045400	Active TSS	Colon Smooth Muscle	Colon
19	chr16:82044400-82045400	Active TSS	Placenta Amnion	Placenta Amnion
20	chr16:82044400-82045400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr16:82044400-82045400	Active TSS	Stomach Mucosa	stomach
22	chr16:82044400-82045400	Active TSS	A549	lung
23	chr16:82044400-82045600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:82044400-82045600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr16:82044400-82045600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr16:82044400-82045600	Active TSS	Rectal Smooth Muscle	rectum
27	chr16:82044400-82046000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:82044600-82045200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
29	chr16:82044600-82045200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:82044600-82045200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:82044600-82045200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
32	chr16:82044600-82045200	Active TSS	Gastric	stomach
33	chr16:82044600-82045200	Active TSS	Pancreas	Pancrea
34	chr16:82044600-82045200	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr16:82044600-82045200	Active TSS	Small Intestine	intestine
36	chr16:82044600-82045200	Active TSS	Thymus	Thymus
37	chr16:82044600-82045400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:82044600-82045400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:82044600-82045400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:82044600-82045400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
41	chr16:82044600-82045400	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr16:82044600-82045400	Bivalent/Poised TSS	Left Ventricle	heart
43	chr16:82044600-82045400	Active TSS	Right Atrium	heart
44	chr16:82044600-82045400	Active TSS	Right Ventricle	heart
45	chr16:82044600-82045400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr16:82044600-82045400	Bivalent/Poised TSS	NH-A	brain
47	chr16:82044600-82045600	Active TSS	Liver	Liver
48	chr16:82044800-82045200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:82044800-82045200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr16:82044800-82045200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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