Variant report

Variant	rs11642006
Chromosome Location	chr16:70413237-70413238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:112)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:112 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr16:70412676-70413659	K562	blood:	n/a	n/a
2	FOXA1	chr16:70412802-70413293	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:70412652-70413672	H1-hESC	embryonic stem cell:	n/a	n/a
4	MBD4	chr16:70412974-70413476	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:70412660-70416018	U87	brain:	n/a	n/a
6	POLR2A	chr16:70412708-70413597	HUVEC	blood vessel:	n/a	n/a
7	PML	chr16:70413002-70413407	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:70412682-70413660	K562	blood:	n/a	n/a
9	NFATC1	chr16:70412821-70413647	GM12878	blood:	n/a	n/a
10	POLR2A	chr16:70412982-70413544	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr16:70412334-70416005	GM12892	blood:	n/a	n/a
12	STAT5A	chr16:70413034-70413469	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:70412567-70413650	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr16:70412613-70415986	GM19193	blood:	n/a	n/a
15	PBX3	chr16:70412748-70413506	A549	lung:	n/a	n/a
16	POLR2A	chr16:70412666-70416011	U87	brain:	n/a	n/a
17	RCOR1	chr16:70413131-70413346	K562	blood:	n/a	n/a
18	JUND	chr16:70413188-70413401	K562	blood:	n/a	n/a
19	POLR2A	chr16:70412722-70413599	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:70412886-70413458	ECC-1	luminal epithelium:	n/a	n/a
21	ELF1	chr16:70412908-70413424	A549	lung:	n/a	n/a
22	POLR2A	chr16:70412895-70413406	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr16:70405928-70416221	K562	blood:	n/a	n/a
24	POLR2A	chr16:70413208-70413379	A549	lung:	n/a	n/a
25	POLR2A	chr16:70412922-70413518	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:70412450-70413616	U87	brain:	n/a	n/a
27	POLR2A	chr16:70407299-70416500	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:70411581-70415810	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr16:70412925-70413420	GM12878	blood:	n/a	n/a
30	POLR2A	chr16:70412964-70413536	HUVEC	blood vessel:	n/a	n/a
31	MYBL2	chr16:70412836-70413464	HepG2	liver:	n/a	n/a
32	PML	chr16:70412695-70416130	GM12878	blood:	n/a	n/a
33	POLR2A	chr16:70413113-70413567	SK-N-MC	brain:	n/a	n/a
34	BCL3	chr16:70412772-70413633	A549	lung:	n/a	n/a
35	POLR2A	chr16:70411417-70413686	K562	blood:	n/a	n/a
36	POLR2A	chr16:70412673-70415797	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr16:70412664-70413485	SK-N-SH	brain:	n/a	n/a
38	CEBPD	chr16:70412921-70413362	HepG2	liver:	n/a	n/a
39	POLR2A	chr16:70412450-70416071	GM12878	blood:	n/a	n/a
40	MTA3	chr16:70412686-70415988	GM12878	blood:	n/a	n/a
41	POLR2A	chr16:70412884-70413388	A549	lung:	n/a	n/a
42	POLR2A	chr16:70412991-70413424	HepG2	liver:	n/a	n/a
43	POLR2A	chr16:70413129-70413411	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr16:70412910-70413401	ProgFib	skin:	n/a	n/a
45	POLR2A	chr16:70412586-70416193	GM12891	blood:	n/a	n/a
46	POLR2A	chr16:70412891-70413610	U87	brain:	n/a	n/a
47	POLR2A	chr16:70412906-70413361	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr16:70412445-70413599	GM12892	blood:	n/a	n/a
49	POLR2A	chr16:70412647-70413406	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr16:70412912-70413418	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70413028..70417887-chr16:70485225..70490092,12	MCF-7	breast:
2	chr16:70413215..70416772-chr16:70556199..70563150,13	MCF-7	breast:
3	chr16:70411514..70413299-chr16:70506059..70508811,2	K562	blood:
4	chr16:70413177..70417869-chr16:70554702..70561133,15	MCF-7	breast:
5	chr16:70412847..70415449-chr16:70713492..70715384,2	MCF-7	breast:
6	chr16:70412934..70415272-chr16:70540814..70543390,2	MCF-7	breast:
7	chr16:70412581..70417154-chr16:70486443..70491865,11	MCF-7	breast:
8	chr16:70412278..70414486-chr17:60004606..60007094,2	MCF-7	breast:
9	chr16:70411449..70413987-chr16:70507586..70509151,2	MCF-7	breast:
10	chr16:70413020..70418181-chr16:70497448..70510572,26	MCF-7	breast:
11	chr16:70411913..70419512-chr16:70432088..70435360,7	MCF-7	breast:
12	chr16:70413182..70415523-chr5:139025161..139027114,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260111	TF binding region
ENSG00000157350	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000171604	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8056474	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 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	chr16:70381600-70414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:70382200-70413600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:70383200-70413400	Strong transcription	Fetal Stomach	stomach
4	chr16:70383600-70413400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr16:70383600-70413600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:70384600-70413400	Strong transcription	Fetal Intestine Small	intestine
7	chr16:70386000-70413400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:70387800-70414000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr16:70398800-70414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr16:70399000-70414200	Weak transcription	Psoas Muscle	Psoas
11	chr16:70400600-70413800	Weak transcription	HMEC	breast
12	chr16:70401000-70413800	Weak transcription	HUVEC	blood vessel
13	chr16:70403200-70413400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:70404400-70414000	Weak transcription	Right Atrium	heart
15	chr16:70406800-70414000	Weak transcription	Small Intestine	intestine
16	chr16:70407000-70414000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:70407200-70414000	Weak transcription	Esophagus	oesophagus
18	chr16:70407400-70413400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:70407600-70413800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:70407800-70413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:70407800-70413800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:70407800-70413800	Weak transcription	Colonic Mucosa	Colon
23	chr16:70407800-70413800	Weak transcription	HSMMtube	muscle
24	chr16:70407800-70414000	Weak transcription	Pancreas	Pancrea
25	chr16:70407800-70414200	Weak transcription	Gastric	stomach
26	chr16:70409600-70416400	Weak transcription	K562	blood
27	chr16:70410200-70413800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr16:70410200-70413800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:70410200-70413800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:70410400-70413400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:70410400-70413400	Weak transcription	Fetal Brain Female	brain
32	chr16:70410400-70413600	Weak transcription	Brain Angular Gyrus	brain
33	chr16:70410400-70413800	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:70410400-70413800	Weak transcription	Brain Substantia Nigra	brain
35	chr16:70410400-70413800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:70410400-70413800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr16:70410400-70414000	Weak transcription	Left Ventricle	heart
38	chr16:70410400-70414000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr16:70410400-70414200	Weak transcription	Aorta	Aorta
40	chr16:70410400-70414200	Weak transcription	Ovary	ovary
41	chr16:70410600-70413400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr16:70410600-70413400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:70410600-70413400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr16:70410600-70413400	Weak transcription	Fetal Lung	lung
45	chr16:70410600-70413800	Weak transcription	Liver	Liver
46	chr16:70410600-70413800	Weak transcription	Brain Anterior Caudate	brain
47	chr16:70410600-70413800	Weak transcription	Spleen	Spleen
48	chr16:70410600-70413800	Weak transcription	NHLF	lung
49	chr16:70410600-70414000	Weak transcription	Lung	lung
50	chr16:70410600-70414000	Weak transcription	NHDF-Ad	bronchial

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