Variant report

Variant	rs2911153
Chromosome Location	chr16:81041346-81041347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:512)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr16:81039662-81041881	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:81039857-81041585	MCF-7	breast:	n/a	n/a
3	TEAD4	chr16:81040970-81041371	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELK1	chr16:81040056-81041451	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr16:81039787-81041482	PANC-1	pancreas:	n/a	n/a
6	MYC	chr16:81039860-81041565	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
7	CTCF	chr16:81041200-81041350	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr16:81041200-81041350	HMF	breast:	n/a	n/a
9	MYBL2	chr16:81039767-81041891	HepG2	liver:	n/a	n/a
10	CHD1	chr16:81040063-81041855	GM12878	blood:	n/a	chr16:81041086-81041096
11	POLR2A	chr16:81040219-81041472	HepG2	liver:	n/a	n/a
12	UBTF	chr16:81039880-81041438	K562	blood:	n/a	n/a
13	YY1	chr16:81040752-81041465	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr16:81040132-81041491	H1-hESC	embryonic stem cell:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
15	POLR2A	chr16:81040040-81041448	HepG2	liver:	n/a	n/a
16	MAX	chr16:81039886-81041471	Hela-S3	cervix:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
17	TAF1	chr16:81039916-81041400	K562	blood:	n/a	n/a
18	POLR2A	chr16:81039956-81041466	HepG2	liver:	n/a	n/a
19	EP300	chr16:81040097-81041525	SK-N-SH	brain:	n/a	chr16:81040172-81040188
20	ATF2	chr16:81039922-81041462	GM12878	blood:	n/a	chr16:81041078-81041089
21	YY1	chr16:81041133-81041416	A549	lung:	n/a	n/a
22	SMC3	chr16:81040185-81041425	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr16:81040547-81041427	IMR90	lung:	n/a	n/a
24	YY1	chr16:81039805-81041488	HepG2	liver:	n/a	chr16:81040203-81040214 chr16:81040518-81040532
25	TAF1	chr16:81041121-81041434	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr16:81040012-81041391	GM10847	blood:	n/a	n/a
27	POLR2A	chr16:81039918-81041465	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr16:81040049-81041470	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr16:81041240-81041390	AG04449	skin:	n/a	n/a
30	SMARCB1	chr16:81039905-81041472	Hela-S3	cervix:	n/a	n/a
31	E2F4	chr16:81039932-81041390	K562	blood:	n/a	chr16:81040835-81040846 chr16:81040519-81040528 chr16:81041080-81041089 chr16:81040797-81040809 chr16:81040798-81040809 chr16:81041078-81041087
32	MAZ	chr16:81039856-81041414	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
33	NFE2	chr16:81041025-81041368	GM12878	blood:	n/a	chr16:81041155-81041164
34	CTCF	chr16:81041220-81041370	GM12867	blood:	n/a	n/a
35	USF1	chr16:81040894-81041389	H1-hESC	embryonic stem cell:	n/a	chr16:81041154-81041165
36	TAF1	chr16:81039907-81041415	HepG2	liver:	n/a	n/a
37	RUNX3	chr16:81039963-81041749	GM12878	blood:	n/a	n/a
38	STAT1	chr16:81039999-81041723	GM12878	blood:	n/a	n/a
39	MAFK	chr16:81040256-81041375	Hela-S3	cervix:	n/a	n/a
40	SIN3AK20	chr16:81039392-81041620	MCF-7	breast:	n/a	n/a
41	POLR2A	chr16:81040019-81041893	GM12878	blood:	n/a	n/a
42	JUND	chr16:81040378-81041354	HepG2	liver:	n/a	chr16:81041079-81041088
43	POLR2A	chr16:81039856-81041840	Hela-S3	cervix:	n/a	n/a
44	MYC	chr16:81039897-81041459	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
45	MAZ	chr16:81039865-81041435	Hela-S3	cervix:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
46	TAF7	chr16:81040167-81041467	H1-hESC	embryonic stem cell:	n/a	n/a
47	USF1	chr16:81040903-81041376	HepG2	liver:	n/a	chr16:81041154-81041165
48	CTCF	chr16:81041280-81041430	SK-N-SH_RA	brain:	n/a	n/a
49	TAF1	chr16:81041140-81041405	GM12892	blood:	n/a	n/a
50	USF1	chr16:81040508-81041469	A549	lung:	n/a	chr16:81041154-81041165

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81041324-81041374	HCF	heart:	n/a
2	chr16:81041324-81041374	Caco-2	colon:	n/a
3	chr16:81041324-81041374	AG09319	gingival:	n/a
4	chr16:81041324-81041374	ovcar-3	ovarian:	n/a
5	chr16:81041324-81041374	PrEC	prostate:	n/a
6	chr16:81041324-81041374	T-47D	breast:	n/a
7	chr16:81041324-81041374	NHDF-neo	bronchial:	n/a
8	chr16:81041324-81041374	HCPEpiC	choroid plexus:	n/a
9	chr16:81041324-81041374	NH-A	brain:	n/a
10	chr16:81041324-81041374	HUVEC	blood vessel:	n/a
11	chr16:81041324-81041374	A549	lung:	n/a
12	chr16:81041324-81041374	ProgFib	skin:	n/a
13	chr16:81041324-81041374	SK-N-MC	brain:	n/a
14	chr16:81041324-81041374	HNPCEpiC	eye:	n/a
15	chr16:81041324-81041374	AG04449	skin:	fetal
16	chr16:81041324-81041374	AG10803	skin:	n/a
17	chr16:81041324-81041374	GM19239	blood:	n/a
18	chr16:81041324-81041374	HRCEpiC	kidney:	n/a
19	chr16:81041324-81041374	AG04450	lung:	fetal
20	chr16:81041324-81041374	PANC-1	pancreas:	n/a
21	chr16:81041324-81041374	CMK	blood:	n/a
22	chr16:81041324-81041374	HepG2	liver:	n/a
23	chr16:81041324-81041374	IMR90	lung:	fetal
24	chr16:81041324-81041374	BE2_C	brain:	n/a
25	chr16:81041324-81041374	Jurkat	blood:	n/a
26	chr16:81041324-81041374	MCF-7	breast:	n/a
27	chr16:81041324-81041374	H1-hESC	embryonic stem cell:	embryo
28	chr16:81041324-81041374	LNCaP	prostate:	n/a
29	chr16:81041324-81041374	HEK293	kidney:	embryo
30	chr16:81041324-81041374	AG09309	skin:	n/a
31	chr16:81041324-81041374	HL-60	blood:	n/a
32	chr16:81041324-81041374	NT2-D1	testis:	n/a
33	chr16:81041324-81041374	Hela-S3	cervix:	n/a
34	chr16:81041324-81041374	K562	blood:	n/a
35	chr16:81041324-81041374	SK-N-SH	brain:	n/a
36	chr16:81041324-81041374	HMEC	breast:	n/a
37	chr16:81041324-81041374	NHBE	bronchial:	n/a
38	chr16:81041324-81041374	GM12878	blood:	n/a
39	chr16:81041324-81041374	GM12892	blood:	n/a
40	chr16:81041324-81041374	HPAEpiC	pulmonary alveolar:	n/a
41	chr16:81041324-81041374	SKMC	muscle:	n/a
42	chr16:81041324-81041374	U87	brain:	n/a
43	chr16:81041324-81041374	PFSK-1	brain:	n/a
44	chr16:81041324-81041374	MCF10A-Er-Src	breast:	n/a
45	chr16:81041324-81041374	HAEpiC	amniotic membrane:	n/a
46	chr16:81041324-81041374	HEEpiC	esophagus:	n/a
47	chr16:81041324-81041374	SK-N-SH_RA	brain:	n/a
48	chr16:81041324-81041374	HCM	heart:	n/a
49	chr16:81041324-81041374	HCT-116	colon:	n/a
50	chr16:81041324-81041374	BJ	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
2	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
3	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
4	chr16:81041195..81043278-chr16:81298968..81300787,2	MCF-7	breast:
5	chr16:81041193..81042878-chr16:81061332..81063223,2	MCF-7	breast:
6	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
7	chr16:81038376..81042418-chr16:81108432..81111584,4	K562	blood:
8	chr16:81037094..81043910-chr16:81050858..81058489,11	MCF-7	breast:
9	chr16:81041089..81043936-chr16:81047527..81050670,4	MCF-7	breast:
10	chr16:81040036..81041738-chr16:81128465..81130557,3	MCF-7	breast:
11	chr16:81041161..81041820-chr16:81068824..81069755,2	MCF-7	breast:
12	chr16:81041223..81041752-chr16:81068906..81069442,2	MCF-7	breast:
13	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
14	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
15	chr16:81006720..81008991-chr16:81041065..81043268,2	MCF-7	breast:
16	chr16:81039722..81044457-chr16:81106699..81112118,5	MCF-7	breast:

No data

Variant related genes	Relation type
CMC2	TF binding region
CMC2	CpG island
ENSG00000166454	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12917718	1.00[AMR][1000 genomes]
rs1463286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16944340	1.00[YRI][hapmap]
rs16944343	1.00[YRI][hapmap]
rs2084960	1.00[AMR][1000 genomes]
rs2084961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2317088	1.00[AMR][1000 genomes]
rs2549851	0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35109118	1.00[AMR][1000 genomes]
rs4888119	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889238	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55735411	1.00[AMR][1000 genomes]
rs6564817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564823	1.00[AMR][1000 genomes]
rs7193361	1.00[AMR][1000 genomes]
rs74028849	1.00[AMR][1000 genomes]
rs804884	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804891	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050760	1.00[AMR][1000 genomes]
rs935939	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935940	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 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	chr16:81037800-81042000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:81037800-81042400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:81038200-81041800	Active TSS	Ovary	ovary
4	chr16:81038200-81041800	Active TSS	Hela-S3	cervix
5	chr16:81038200-81042000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:81038200-81042400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:81038400-81042000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr16:81038400-81042200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr16:81038400-81042200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:81038800-81041800	Active TSS	Left Ventricle	heart
11	chr16:81038800-81042000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:81038800-81042200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr16:81038800-81042200	Active TSS	A549	lung
14	chr16:81038800-81042400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr16:81039200-81041800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:81039200-81041800	Active TSS	Stomach Mucosa	stomach
17	chr16:81039400-81041600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:81039400-81041800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr16:81039400-81041800	Active TSS	Gastric	stomach
20	chr16:81039400-81042000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:81039400-81042200	Active TSS	Colonic Mucosa	Colon
22	chr16:81039400-81042400	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr16:81039400-81042400	Active TSS	NHLF	lung
24	chr16:81039600-81041400	Active TSS	Placenta	Placenta
25	chr16:81039600-81041400	Active TSS	Stomach Smooth Muscle	stomach
26	chr16:81039600-81041600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:81039600-81041600	Active TSS	Fetal Muscle Leg	muscle
28	chr16:81039600-81041600	Active TSS	Right Ventricle	heart
29	chr16:81039600-81041800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:81039600-81041800	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr16:81039600-81041800	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr16:81039600-81041800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:81039600-81041800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr16:81039600-81041800	Active TSS	Fetal Thymus	thymus
35	chr16:81039600-81041800	Active TSS	Lung	lung
36	chr16:81039600-81041800	Active TSS	Psoas Muscle	Psoas
37	chr16:81039600-81041800	Active TSS	Dnd41	blood
38	chr16:81039600-81041800	Active TSS	HMEC	breast
39	chr16:81039600-81041800	Active TSS	HUVEC	blood vessel
40	chr16:81039600-81041800	Active TSS	NHEK	skin
41	chr16:81039600-81042000	Active TSS	H1 Cell Line	embryonic stem cell
42	chr16:81039600-81042000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr16:81039600-81042000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:81039600-81042000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:81039600-81042000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr16:81039600-81042000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr16:81039600-81042000	Active TSS	Brain Angular Gyrus	brain
48	chr16:81039600-81042000	Active TSS	Brain Substantia Nigra	brain
49	chr16:81039600-81042000	Active TSS	Esophagus	oesophagus
50	chr16:81039600-81042000	Active TSS	Fetal Intestine Small	intestine

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