Variant report

Variant	rs13334514
Chromosome Location	chr16:82045227-82045228
allele	C/T
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	POLR2A	chr16:82045188-82045255	A549	lung:	n/a	n/a
3	YY1	chr16:82044882-82045454	HCT-116	colon:	n/a	chr16:82044955-82044964
4	ZNF143	chr16:82044584-82045359	GM12878	blood:	n/a	chr16:82044807-82044817
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	ELF1	chr16:82044689-82045352	GM12878	blood:	n/a	chr16:82045106-82045117 chr16:82045107-82045116 chr16:82045105-82045118
22	HA-E2F1	chr16:82044609-82045448	MCF-7	breast:	n/a	chr16:82044855-82044867
23	YY1	chr16:82044867-82045267	GM12891	blood:	n/a	chr16:82044955-82044964
24	GABPA	chr16:82044704-82045352	A549	lung:	n/a	n/a
25	TAF1	chr16:82044877-82045309	GM12892	blood:	n/a	n/a
26	POLR2A	chr16:82044716-82045391	MCF10A-Er-Src	breast:	n/a	n/a
27	MAX	chr16:82044962-82045261	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:82044697-82045398	MCF-7	breast:	n/a	n/a
29	MAX	chr16:82044853-82045321	A549	lung:	n/a	n/a
30	ELK1	chr16:82044869-82045291	GM12878	blood:	n/a	n/a
31	POLR2A	chr16:82044900-82045305	GM12892	blood:	n/a	n/a
32	POLR2A	chr16:82044623-82045390	HCT-116	colon:	n/a	n/a
33	SIN3AK20	chr16:82044279-82045485	MCF-7	breast:	n/a	n/a
34	GABPA	chr16:82044769-82045333	K562	blood:	n/a	n/a
35	POLR2A	chr16:82044639-82045375	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr16:82044853-82045291	GM12878	blood:	n/a	n/a
37	MAX	chr16:82044772-82045345	A549	lung:	n/a	n/a
38	POLR2A	chr16:82044739-82045297	GM12878	blood:	n/a	n/a
39	POLR2A	chr16:82044655-82045360	GM18505	blood:	n/a	n/a
40	ELF1	chr16:82044599-82045520	MCF-7	breast:	n/a	chr16:82045106-82045117 chr16:82045107-82045116 chr16:82045105-82045118
41	ZEB1	chr16:82045045-82045252	GM12878	blood:	n/a	n/a
42	MYC	chr16:82044944-82045252	K562	blood:	n/a	n/a
43	POLR2A	chr16:82044832-82045235	MCF-7	breast:	n/a	n/a
44	MAZ	chr16:82044925-82045233	GM12878	blood:	n/a	n/a
45	SP2	chr16:82044886-82045265	K562	blood:	n/a	n/a
46	YY1	chr16:82044946-82045231	GM12878	blood:	n/a	chr16:82044955-82044964
47	MYC	chr16:82044819-82045336	MCF-7	breast:	n/a	n/a
48	POLR2A	chr16:82044700-82045370	Raji	blood:	n/a	n/a
49	ELF1	chr16:82044475-82045579	HCT-116	colon:	n/a	chr16:82045106-82045117 chr16:82045107-82045116 chr16:82045105-82045118
50	PAX5	chr16:82045018-82045326	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:82045222-82045272	K562	blood:	n/a
2	chr16:82045183-82045233	SK-N-MC	brain:	n/a
3	chr16:82045183-82045233	AoSMC	blood vessel:	n/a
4	chr16:82045203-82045253	Hela-S3	cervix:	n/a
5	chr16:82045183-82045233	HCF	heart:	n/a
6	chr16:82045183-82045233	AG04450	lung:	fetal
7	chr16:82045203-82045253	NH-A	brain:	n/a
8	chr16:82045222-82045272	GM19239	blood:	n/a
9	chr16:82045203-82045253	SKMC	muscle:	n/a
10	chr16:82045183-82045233	SKMC	muscle:	n/a
11	chr16:82045222-82045272	SK-N-SH	brain:	n/a
12	chr16:82045203-82045253	HUVEC	blood vessel:	n/a
13	chr16:82045203-82045253	U87	brain:	n/a
14	chr16:82045183-82045233	IMR90	lung:	fetal
15	chr16:82045222-82045272	IMR90	lung:	fetal
16	chr16:82045183-82045233	HRE	kidney:	n/a
17	chr16:82045222-82045272	U87	brain:	n/a
18	chr16:82045203-82045253	HCT-116	colon:	n/a
19	chr16:82045203-82045253	HepG2	liver:	n/a
20	chr16:82045183-82045233	LNCaP	prostate:	n/a
21	chr16:82045222-82045272	NT2-D1	testis:	n/a
22	chr16:82045203-82045253	AG04450	lung:	fetal
23	chr16:82045203-82045253	HPAEpiC	pulmonary alveolar:	n/a
24	chr16:82045183-82045233	HAEpiC	amniotic membrane:	n/a
25	chr16:82045203-82045253	ECC-1	luminal epithelium:	n/a
26	chr16:82045183-82045233	MCF-7	breast:	n/a
27	chr16:82045203-82045253	A549	lung:	n/a
28	chr16:82045203-82045253	Hepatocyte	liver:	n/a
29	chr16:82045222-82045272	MCF10A-Er-Src	breast:	n/a
30	chr16:82045183-82045233	Caco-2	colon:	n/a
31	chr16:82045203-82045253	GM06990	blood:	n/a
32	chr16:82045203-82045253	PrEC	prostate:	n/a
33	chr16:82045183-82045233	PFSK-1	brain:	n/a
34	chr16:82045203-82045253	K562	blood:	n/a
35	chr16:82045183-82045233	HIPEpiC	eye:	n/a
36	chr16:82045183-82045233	HRCEpiC	kidney:	n/a
37	chr16:82045222-82045272	HNPCEpiC	eye:	n/a
38	chr16:82045222-82045272	AG10803	skin:	n/a
39	chr16:82045222-82045272	HCM	heart:	n/a
40	chr16:82045203-82045253	GM12878	blood:	n/a
41	chr16:82045203-82045253	HNPCEpiC	eye:	n/a
42	chr16:82045183-82045233	NT2-D1	testis:	n/a
43	chr16:82045222-82045272	HCT-116	colon:	n/a
44	chr16:82045222-82045272	AG04449	skin:	fetal
45	chr16:82045203-82045253	H1-hESC	embryonic stem cell:	embryo
46	chr16:82045222-82045272	NHDF-neo	bronchial:	n/a
47	chr16:82045183-82045233	HNPCEpiC	eye:	n/a
48	chr16:82045183-82045233	AG10803	skin:	n/a
49	chr16:82045203-82045253	GM12891	blood:	n/a
50	chr16:82045183-82045233	K562	blood:	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
ENSG00000199377	Chromatin interaction
ENSG00000114744	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11865006	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13333646	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13333826	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956130	0.94[ASN][1000 genomes]
rs16956155	0.94[ASN][1000 genomes]
rs16956161	1.00[ASN][1000 genomes]
rs16956174	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16956191	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16956202	1.00[ASN][1000 genomes]
rs16956236	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16956242	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28448747	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28558197	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34132140	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36043523	1.00[ASN][1000 genomes]
rs41530451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4262939	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4316745	1.00[ASN][1000 genomes]
rs4354930	1.00[ASN][1000 genomes]
rs4476172	1.00[ASN][1000 genomes]
rs4536470	1.00[ASN][1000 genomes]
rs4541072	0.89[ASN][1000 genomes]
rs4580158	1.00[ASN][1000 genomes]
rs4591137	1.00[ASN][1000 genomes]
rs4636900	0.89[ASN][1000 genomes]
rs57566286	0.86[AMR][1000 genomes]
rs58097356	0.89[ASN][1000 genomes]
rs59151852	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59961458	0.94[ASN][1000 genomes]
rs59976110	1.00[ASN][1000 genomes]
rs60200374	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61644377	1.00[ASN][1000 genomes]
rs6564956	1.00[ASN][1000 genomes]
rs6564957	0.89[ASN][1000 genomes]
rs6564960	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187298	1.00[ASN][1000 genomes]
rs7188332	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7193161	1.00[AMR][1000 genomes]
rs7193258	0.94[ASN][1000 genomes]
rs7194226	1.00[ASN][1000 genomes]
rs7195977	0.95[AMR][1000 genomes]
rs7198264	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7201738	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7202378	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202626	1.00[ASN][1000 genomes]
rs7205983	0.89[ASN][1000 genomes]
rs7206672	1.00[ASN][1000 genomes]
rs73598796	1.00[ASN][1000 genomes]
rs73600709	1.00[ASN][1000 genomes]
rs73600733	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600740	0.89[ASN][1000 genomes]
rs74029358	0.86[AMR][1000 genomes]
rs8046900	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8048305	0.95[AMR][1000 genomes]
rs8048713	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8049910	1.00[ASN][1000 genomes]
rs8053337	0.89[ASN][1000 genomes]
rs8054497	1.00[ASN][1000 genomes]
rs8057181	0.87[ASN][1000 genomes]
rs8063026	0.94[ASN][1000 genomes]
rs8064052	0.86[AMR][1000 genomes]
rs9921872	1.00[ASN][1000 genomes]
rs9933207	0.94[ASN][1000 genomes]
rs9933660	0.94[ASN][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:70 , 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	chr16:82044200-82045400	Active TSS	Fetal Intestine Large	intestine
3	chr16:82044200-82045400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr16:82044200-82045600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:82044200-82045600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:82044200-82045600	Active TSS	Fetal Kidney	kidney
7	chr16:82044200-82045600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr16:82044200-82045600	ZNF genes & repeats	GM12878-XiMat	blood
9	chr16:82044400-82045400	Active TSS	Colon Smooth Muscle	Colon
10	chr16:82044400-82045400	Active TSS	Placenta Amnion	Placenta Amnion
11	chr16:82044400-82045400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr16:82044400-82045400	Active TSS	Stomach Mucosa	stomach
13	chr16:82044400-82045400	Active TSS	A549	lung
14	chr16:82044400-82045600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:82044400-82045600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr16:82044400-82045600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr16:82044400-82045600	Active TSS	Rectal Smooth Muscle	rectum
18	chr16:82044400-82046000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:82044600-82045400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:82044600-82045400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:82044600-82045400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr16:82044600-82045400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
23	chr16:82044600-82045400	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr16:82044600-82045400	Bivalent/Poised TSS	Left Ventricle	heart
25	chr16:82044600-82045400	Active TSS	Right Atrium	heart
26	chr16:82044600-82045400	Active TSS	Right Ventricle	heart
27	chr16:82044600-82045400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr16:82044600-82045400	Bivalent/Poised TSS	NH-A	brain
29	chr16:82044600-82045600	Active TSS	Liver	Liver
30	chr16:82044800-82045400	Bivalent/Poised TSS	Aorta	Aorta
31	chr16:82044800-82045400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
32	chr16:82044800-82045600	Active TSS	Primary T cells from cord blood	blood
33	chr16:82044800-82045600	Active TSS	Primary hematopoietic stem cells	blood
34	chr16:82044800-82045600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:82044800-82045600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:82044800-82045800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
37	chr16:82045000-82045400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:82045000-82045400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr16:82045000-82045400	Active TSS	HSMM	muscle
40	chr16:82045000-82045400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr16:82045000-82045600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:82045000-82045600	Bivalent/Poised TSS	Osteobl	bone
43	chr16:82045200-82045400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:82045200-82045400	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr16:82045200-82045400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:82045200-82045400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:82045200-82045400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:82045200-82045400	Flanking Active TSS	Colonic Mucosa	Colon
49	chr16:82045200-82045400	Flanking Active TSS	Esophagus	oesophagus
50	chr16:82045200-82045400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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