Variant report

Variant	rs370943475
Chromosome Location	chr16:70505024-70505025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:70504900-70505050	HEK293	kidney:	n/a	n/a
2	CTCF	chr16:70504900-70505050	GM12866	blood:	n/a	n/a
3	CTCF	chr16:70504813-70505118	H1-hESC	embryonic stem cell:	n/a	chr16:70504851-70504864
4	MAZ	chr16:70504859-70505095	HepG2	liver:	n/a	n/a
5	CTCF	chr16:70504847-70505094	NHEK	skin:	n/a	chr16:70504851-70504864
6	RCOR1	chr16:70505024-70505073	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr16:70504880-70505030	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr16:70504674-70505180	MCF-7	breast:	n/a	chr16:70504851-70504864
9	CTCF	chr16:70504920-70505070	GM12872	blood:	n/a	n/a
10	RAD21	chr16:70504643-70505263	HCT-116	colon:	n/a	n/a
11	CTCF	chr16:70504856-70505087	GM19240	blood:	n/a	n/a
12	RAD21	chr16:70504691-70505206	A549	lung:	n/a	n/a
13	CTCF	chr16:70504869-70505115	GM12891	blood:	n/a	n/a
14	RAD21	chr16:70504649-70505233	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr16:70504940-70505090	GM06990	blood:	n/a	n/a
16	RAD21	chr16:70504859-70505071	K562	blood:	n/a	n/a
17	CTCF	chr16:70504843-70505129	Hela-S3	cervix:	n/a	chr16:70504851-70504864
18	CCNT2	chr16:70504894-70505145	K562	blood:	n/a	n/a
19	CTCF	chr16:70504880-70505030	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr16:70504900-70505050	AG10803	skin:	n/a	n/a
21	RAD21	chr16:70504777-70505112	IMR90	lung:	n/a	n/a
22	CTCF	chr16:70504880-70505030	AG09309	skin:	n/a	n/a
23	CTCF	chr16:70504880-70505030	GM12865	blood:	n/a	n/a
24	CTCF	chr16:70504920-70505070	AG09309	skin:	n/a	n/a
25	CTCF	chr16:70504880-70505030	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr16:70504905-70505037	GM13977	blood:	n/a	n/a
27	CTCF	chr16:70504940-70505090	RPTEC	kidney:	n/a	n/a
28	HMGN3	chr16:70504755-70505256	K562	blood:	n/a	n/a
29	CTCF	chr16:70504960-70505110	HL-60	blood:	n/a	n/a
30	NFYA	chr16:70504988-70505216	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr16:70504706-70505152	H1-hESC	embryonic stem cell:	n/a	chr16:70504851-70504864
32	MAZ	chr16:70504793-70505114	K562	blood:	n/a	n/a
33	RCOR1	chr16:70504968-70505079	HepG2	liver:	n/a	n/a
34	CTCF	chr16:70504880-70505030	GM12864	blood:	n/a	n/a
35	CTCF	chr16:70504980-70505130	HFF	foreskin:	n/a	n/a
36	CTCF	chr16:70504880-70505030	GM12873	blood:	n/a	n/a
37	RAD21	chr16:70504725-70505058	H1-hESC	embryonic stem cell:	n/a	n/a
38	BHLHE40	chr16:70504789-70505092	HepG2	liver:	n/a	n/a
39	CTCF	chr16:70504920-70505070	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr16:70504852-70505124	Fibrobl	skin:	n/a	n/a
41	RAD21	chr16:70504685-70505171	HepG2	liver:	n/a	n/a
42	RAD21	chr16:70504646-70505179	HepG2	liver:	n/a	n/a
43	CTCF	chr16:70504960-70505110	GM12878	blood:	n/a	n/a
44	CTCF	chr16:70504960-70505110	HFF-Myc	foreskin:	n/a	n/a
45	MYC	chr16:70504830-70505242	MCF-7	breast:	n/a	n/a
46	CTCF	chr16:70504753-70505113	HepG2	liver:	n/a	chr16:70504851-70504864
47	MAX	chr16:70504848-70505048	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr16:70504900-70505050	K562	blood:	n/a	n/a
49	CTCF	chr16:70504852-70505110	Gliobla	brain:	n/a	n/a
50	CTCF	chr16:70504872-70505107	ProgFib	skin:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70503633..70506860-chr16:70556143..70558862,3	MCF-7	breast:
2	chr16:70424507..70425403-chr16:70504469..70505365,3	MCF-7	breast:
3	chr16:70503433..70505616-chr16:70512228..70514633,3	K562	blood:
4	chr16:70428887..70429566-chr16:70504906..70505567,3	MCF-7	breast:
5	chr16:70498553..70500148-chr16:70504235..70506069,2	K562	blood:
6	chr16:70429376..70429898-chr16:70504488..70505417,3	K562	blood:
7	chr16:70487135..70489570-chr16:70502867..70505697,3	MCF-7	breast:
8	chr16:70504177..70506838-chr16:70507916..70509706,2	K562	blood:
9	chr16:70428972..70429950-chr16:70504540..70505471,10	MCF-7	breast:
10	chr16:70430256..70430847-chr16:70504861..70505385,2	MCF-7	breast:
11	chr16:70413020..70418181-chr16:70497448..70510572,26	MCF-7	breast:
12	chr16:70414709..70415539-chr16:70504523..70505445,2	MCF-7	breast:
13	chr16:70504816..70506986-chr16:70508068..70510563,2	MCF-7	breast:
14	chr16:70503488..70506383-chr16:70517357..70519879,2	MCF-7	breast:

No data

Variant related genes	Relation type
FUK	TF binding region
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000157353	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv906873	chr16:70495911-70509838	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1828600	chr16:70500809-70515355	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1812578	chr16:70504305-70515355	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489200-70506000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:70489200-70508800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:70489400-70508800	Weak transcription	HMEC	breast
4	chr16:70489400-70509000	Weak transcription	NHEK	skin
5	chr16:70489400-70509400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:70489400-70510600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:70489400-70511800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:70489400-70512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:70489400-70513000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
14	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
15	chr16:70490200-70514400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:70490600-70505600	Weak transcription	K562	blood
17	chr16:70495000-70519000	Strong transcription	Primary T cells from cord blood	blood
18	chr16:70495200-70510200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:70495200-70510200	Weak transcription	Osteobl	bone
20	chr16:70495400-70506800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:70495400-70507000	Weak transcription	Fetal Brain Female	brain
22	chr16:70495400-70508800	Weak transcription	GM12878-XiMat	blood
23	chr16:70495400-70510200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:70495400-70510200	Weak transcription	HSMM	muscle
25	chr16:70495400-70510400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:70495800-70512800	Weak transcription	Right Atrium	heart
27	chr16:70497000-70507800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:70497000-70510200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr16:70497200-70510600	Strong transcription	Lung	lung
30	chr16:70497800-70506200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:70498000-70510200	Weak transcription	HSMMtube	muscle
32	chr16:70498000-70510400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr16:70498200-70506200	Weak transcription	Left Ventricle	heart
34	chr16:70498200-70506600	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:70498200-70507400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:70498200-70507400	Weak transcription	Fetal Thymus	thymus
37	chr16:70498200-70508200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:70498200-70509200	Weak transcription	NHLF	lung
39	chr16:70498200-70510200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:70498200-70511600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr16:70498200-70513600	Weak transcription	Fetal Kidney	kidney
42	chr16:70498800-70507200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:70499200-70506000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr16:70499200-70507200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:70499200-70507200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:70499200-70510800	Weak transcription	Primary B cells from cord blood	blood
47	chr16:70499400-70506000	Weak transcription	Brain Substantia Nigra	brain
48	chr16:70499400-70506600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr16:70499400-70507200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:70499400-70510600	Weak transcription	Primary B cells from peripheral blood	blood

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