Variant report

Variant	rs111302117
Chromosome Location	chr16:30407045-30407046
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	TAF1	chr16:30405653-30407431	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr16:30406831-30407246	H1-hESC	embryonic stem cell:	n/a	chr16:30407025-30407037 chr16:30407025-30407035 chr16:30407023-30407036 chr16:30407020-30407039
3	CTCF	chr16:30406980-30407130	HFF	foreskin:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
4	CTBP2	chr16:30406532-30407299	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr16:30406527-30407290	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr16:30406413-30407147	NB4	blood:	n/a	n/a
7	CTCF	chr16:30406921-30407114	A549	lung:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
8	MYC	chr16:30407007-30407207	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr16:30406462-30407418	ECC-1	luminal epithelium:	n/a	chr16:30407025-30407037 chr16:30407025-30407035 chr16:30407023-30407036 chr16:30407020-30407039
10	CTCF	chr16:30406910-30407179	GM19238	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037 chr16:30406917-30406930
11	CTCF	chr16:30406907-30407154	GM13977	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037 chr16:30406917-30406930
12	MYC	chr16:30406480-30407287	HepG2	liver:	n/a	n/a
13	ELF1	chr16:30406294-30407131	HepG2	liver:	n/a	chr16:30406724-30406737
14	POLR2A	chr16:30406351-30407456	HCT-116	colon:	n/a	n/a
15	GABPA	chr16:30406419-30407351	HepG2	liver:	n/a	n/a
16	CTCFL	chr16:30406913-30407104	K562	blood:	n/a	n/a
17	CTCF	chr16:30406940-30407090	AG10803	skin:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
18	TAF1	chr16:30406293-30407235	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr16:30406857-30407153	K562	blood:	n/a	chr16:30407025-30407037 chr16:30407025-30407035 chr16:30407023-30407036 chr16:30407020-30407039
20	CTCF	chr16:30406309-30407498	A549	lung:	n/a	chr16:30407022-30407035 chr16:30407019-30407037 chr16:30406917-30406930
21	MXI1	chr16:30406388-30407374	HepG2	liver:	n/a	n/a
22	MAX	chr16:30406989-30407249	A549	lung:	n/a	n/a
23	CTCF	chr16:30407020-30407170	GM12873	blood:	n/a	chr16:30407022-30407035
24	RUNX3	chr16:30406914-30407373	GM12878	blood:	n/a	n/a
25	BHLHE40	chr16:30406472-30407137	HepG2	liver:	n/a	n/a
26	CTCF	chr16:30406980-30407130	AG04450	lung:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
27	MXI1	chr16:30406250-30407665	IMR90	lung:	n/a	n/a
28	MAZ	chr16:30406506-30407452	GM12878	blood:	n/a	n/a
29	E2F6	chr16:30406940-30407102	K562	blood:	n/a	n/a
30	MYC	chr16:30406461-30407206	MCF10A-Er-Src	breast:	n/a	n/a
31	CTCF	chr16:30407000-30407150	HBMEC	blood vessel:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
32	CTCF	chr16:30406960-30407110	HMEC	breast:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
33	BCLAF1	chr16:30406455-30407236	GM12878	blood:	n/a	chr16:30407013-30407026
34	CTCF	chr16:30406566-30407219	K562	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037 chr16:30406917-30406930
35	RAD21	chr16:30406872-30407244	HepG2	liver:	n/a	chr16:30407025-30407037 chr16:30407025-30407035 chr16:30407023-30407036 chr16:30407020-30407039
36	CTCF	chr16:30406960-30407110	GM12872	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
37	MYC	chr16:30406469-30407411	K562	blood:	n/a	n/a
38	UBTF	chr16:30405890-30407417	K562	blood:	n/a	n/a
39	CTCF	chr16:30407000-30407150	GM12865	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
40	CTCF	chr16:30406960-30407110	GM12864	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
41	CTCF	chr16:30406913-30407114	GM20000	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037 chr16:30406917-30406930
42	YY1	chr16:30406858-30407140	GM12891	blood:	n/a	chr16:30407011-30407025
43	MAX	chr16:30406350-30407503	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr16:30406980-30407130	HMEC	breast:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
45	MAX	chr16:30406434-30407253	K562	blood:	n/a	n/a
46	CTCF	chr16:30406931-30407166	NHEK	skin:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
47	MAX	chr16:30406967-30407507	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr16:30406349-30407261	HepG2	liver:	n/a	n/a
49	SP1	chr16:30406384-30407094	GM12878	blood:	n/a	chr16:30406395-30406409
50	CTCF	chr16:30406960-30407110	WERI-Rb-1	eye:	n/a	chr16:30407022-30407035 chr16:30407019-30407037

No.	Distal block	Cell Line	Cell type
1	chr16:30374634..30377122-chr16:30405649..30407903,2	K562	blood:
2	chr1:91966304..91966898-chr16:30406443..30407227,2	Hela-S3	cervix:
3	chr16:30405548..30408419-chr16:30620470..30622922,2	MCF-7	breast:
4	chr16:30077266..30078952-chr16:30405580..30407147,2	MCF-7	breast:
5	chr16:30405344..30408453-chr16:30439632..30442076,3	MCF-7	breast:
6	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
7	chr16:30385968..30392864-chr16:30403786..30414800,30	MCF-7	breast:
8	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
9	chr16:30393486..30397071-chr16:30402673..30407150,6	MCF-7	breast:
10	chr16:30406965..30407478-chr16:30662235..30662825,2	K562	blood:
11	chr16:30405223..30408007-chr16:30567849..30569998,3	MCF-7	breast:
12	chr16:30405261..30407569-chr16:30455597..30457105,2	MCF-7	breast:
13	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
14	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
15	chr16:30406017..30408531-chr16:30454989..30457376,2	MCF-7	breast:
16	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
17	chr16:30405726..30407812-chr16:30662378..30664163,2	K562	blood:
18	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:
19	chr16:30366042..30367681-chr16:30406512..30408947,2	MCF-7	breast:
20	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
21	chr16:30384243..30394929-chr16:30405602..30409736,14	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D10B-1	chr16:30406989-30407312	NONHSAT141744

Variant related genes	Relation type
SEPT1	TF binding region
ENSG00000180035	Chromatin interaction
ENSG00000270466	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000097046	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000179918	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking 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	37 gene(s)	inside rSNPs	diseases
9	nsv1782	chr16:30391812-30410266	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv3325798	chr16:30405476-30408024	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr16:30405000-30407400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:30405000-30407600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30405400-30407600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:30405400-30407800	Active TSS	Fetal Kidney	kidney
5	chr16:30405600-30407200	Active TSS	Colonic Mucosa	Colon
6	chr16:30405600-30407400	Active TSS	Hela-S3	cervix
7	chr16:30405600-30407600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:30405600-30407800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr16:30405600-30407800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:30405800-30407200	Active TSS	Brain Anterior Caudate	brain
11	chr16:30405800-30407200	Active TSS	HMEC	breast
12	chr16:30405800-30407400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr16:30405800-30407400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr16:30405800-30407400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr16:30405800-30407400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr16:30405800-30407400	Active TSS	Right Ventricle	heart
17	chr16:30405800-30407400	Bivalent/Poised TSS	HepG2	liver
18	chr16:30405800-30407400	Active TSS	NHLF	lung
19	chr16:30405800-30407600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:30405800-30407600	Active TSS	Aorta	Aorta
21	chr16:30405800-30407800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr16:30405800-30407800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:30405800-30407800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:30405800-30407800	Active TSS	NHDF-Ad	bronchial
25	chr16:30405800-30408000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr16:30405800-30408000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:30405800-30408000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr16:30405800-30408000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:30405800-30408000	Active TSS	Right Atrium	heart
30	chr16:30405800-30408200	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr16:30406000-30407200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:30406000-30407200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr16:30406000-30407200	Active TSS	Fetal Muscle Trunk	muscle
34	chr16:30406000-30407200	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr16:30406000-30407200	Active TSS	HSMM	muscle
36	chr16:30406000-30407400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:30406000-30407400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:30406000-30407400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:30406000-30407400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:30406000-30407400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr16:30406000-30407400	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr16:30406000-30407400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:30406000-30407400	Active TSS	Brain Germinal Matrix	brain
44	chr16:30406000-30407400	Active TSS	Brain Substantia Nigra	brain
45	chr16:30406000-30407400	Active TSS	Colon Smooth Muscle	Colon
46	chr16:30406000-30407400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr16:30406000-30407400	Active TSS	Fetal Intestine Large	intestine
48	chr16:30406000-30407400	Active TSS	Fetal Lung	lung
49	chr16:30406000-30407400	Active TSS	Fetal Stomach	stomach
50	chr16:30406000-30407400	Active TSS	Placenta Amnion	Placenta Amnion

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