Variant report

Variant	rs370802446
Chromosome Location	chr14:71275646-71275647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr14:71275568-71275768	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:71274832-71276927	GM19193	blood:	n/a	n/a
3	POLR2A	chr14:71275458-71275769	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:71275437-71275851	A549	lung:	n/a	n/a
5	TAF1	chr14:71275433-71275817	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:71275622-71275723	MCF-7	breast:	n/a	n/a
7	REST	chr14:71275445-71275767	SK-N-SH	brain:	n/a	n/a
8	HCFC1	chr14:71274546-71277238	Hela-S3	cervix:	n/a	n/a
9	REST	chr14:71275434-71275861	GM12878	blood:	n/a	n/a
10	ZBTB7A	chr14:71275229-71276892	ECC-1	luminal epithelium:	n/a	n/a
11	MYC	chr14:71275436-71275830	MCF-7	breast:	n/a	n/a
12	REST	chr14:71275401-71275800	U87	brain:	n/a	n/a
13	POLR2A	chr14:71275153-71275784	MCF-7	breast:	n/a	n/a
14	MAX	chr14:71274740-71275874	A549	lung:	n/a	chr14:71275152-71275162
15	POLR2A	chr14:71275472-71275829	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:71275164-71276921	MCF-7	breast:	n/a	n/a
17	NR2F2	chr14:71274809-71277026	MCF-7	breast:	n/a	n/a
18	MAX	chr14:71275353-71275793	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF7L2	chr14:71275604-71277241	HCT-116	colon:	n/a	chr14:71276893-71276902 chr14:71276890-71276904 chr14:71276890-71276904
20	CREB1	chr14:71275276-71275786	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr14:71275451-71275797	A549	lung:	n/a	n/a
22	SIN3AK20	chr14:71274569-71277236	MCF-7	breast:	n/a	n/a
23	POLR2A	chr14:71275431-71275646	HCT-116	colon:	n/a	n/a
24	POLR2A	chr14:71274910-71277014	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr14:71274869-71275774	MCF-7	breast:	n/a	n/a
26	MYC	chr14:71275607-71275732	MCF-7	breast:	n/a	n/a
27	SIN3AK20	chr14:71275472-71275747	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr14:71275403-71275800	U87	brain:	n/a	n/a
29	REST	chr14:71275502-71275778	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr14:71275402-71275695	Gliobla	brain:	n/a	n/a
31	POLR2A	chr14:71275548-71276899	MCF10A-Er-Src	breast:	n/a	n/a
32	MAX	chr14:71275638-71275713	HepG2	liver:	n/a	n/a
33	ZNF143	chr14:71275294-71275747	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr14:71274892-71277157	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:71275431-71275709	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:71274834-71276913	GM18951	blood:	n/a	n/a
37	POLR2A	chr14:71275172-71277088	HepG2	liver:	n/a	n/a
38	POLR2A	chr14:71275289-71275743	A549	lung:	n/a	n/a
39	REST	chr14:71275496-71275715	Hela-S3	cervix:	n/a	n/a
40	CREB1	chr14:71275297-71275694	A549	lung:	n/a	n/a
41	POLR2A	chr14:71275423-71276941	ECC-1	luminal epithelium:	n/a	n/a
42	SIN3AK20	chr14:71275399-71276859	PANC-1	pancreas:	n/a	n/a
43	RCOR1	chr14:71274784-71275826	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr14:71275514-71276935	HEK293	kidney:	n/a	n/a
45	MAX	chr14:71275447-71275903	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr14:71275096-71276929	HepG2	liver:	n/a	n/a
47	REST	chr14:71275453-71275837	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr14:71274925-71275647	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr14:71274916-71276930	Hela-S3	cervix:	n/a	chr14:71276130-71276140
50	POLR2A	chr14:71274783-71276900	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71275631-71275681	HMEC	breast:	n/a
2	chr14:71275631-71275681	AG09309	skin:	n/a
3	chr14:71275631-71275681	Hepatocyte	liver:	n/a
4	chr14:71275631-71275681	HRE	kidney:	n/a
5	chr14:71275631-71275681	H1-hESC	embryonic stem cell:	embryo
6	chr14:71275631-71275681	SK-N-MC	brain:	n/a
7	chr14:71275631-71275681	NHDF-neo	bronchial:	n/a
8	chr14:71275631-71275681	HCPEpiC	choroid plexus:	n/a
9	chr14:71275631-71275681	GM12892	blood:	n/a
10	chr14:71275631-71275681	AG09319	gingival:	n/a
11	chr14:71275631-71275681	A549	lung:	n/a
12	chr14:71275631-71275681	HEK293	kidney:	embryo
13	chr14:71275631-71275681	HRCEpiC	kidney:	n/a
14	chr14:71275631-71275681	HL-60	blood:	n/a
15	chr14:71275631-71275681	Hela-S3	cervix:	n/a
16	chr14:71275631-71275681	NB4	blood:	n/a
17	chr14:71275631-71275681	SK-N-SH	brain:	n/a
18	chr14:71275631-71275681	Caco-2	colon:	n/a
19	chr14:71275631-71275681	GM06990	blood:	n/a
20	chr14:71275631-71275681	SKMC	muscle:	n/a
21	chr14:71275631-71275681	MCF-7	breast:	n/a
22	chr14:71275631-71275681	AoSMC	blood vessel:	n/a
23	chr14:71275631-71275681	NT2-D1	testis:	n/a
24	chr14:71275631-71275681	ECC-1	luminal epithelium:	n/a
25	chr14:71275631-71275681	IMR90	lung:	fetal
26	chr14:71275631-71275681	MCF10A-Er-Src	breast:	n/a
27	chr14:71275631-71275681	HEEpiC	esophagus:	n/a
28	chr14:71275631-71275681	GM19239	blood:	n/a
29	chr14:71275631-71275681	ProgFib	skin:	n/a
30	chr14:71275631-71275681	HCF	heart:	n/a
31	chr14:71275631-71275681	LNCaP	prostate:	n/a
32	chr14:71275631-71275681	HIPEpiC	eye:	n/a
33	chr14:71275631-71275681	SAEC	small airway:	n/a
34	chr14:71275631-71275681	HCT-116	colon:	n/a
35	chr14:71275631-71275681	BE2_C	brain:	n/a
36	chr14:71275631-71275681	GM12891	blood:	n/a
37	chr14:71275631-71275681	NH-A	brain:	n/a
38	chr14:71275631-71275681	Jurkat	blood:	n/a
39	chr14:71275631-71275681	K562	blood:	n/a
40	chr14:71275631-71275681	HRPEpiC	eye:	n/a
41	chr14:71275631-71275681	NHBE	bronchial:	n/a
42	chr14:71275631-71275681	HPAEpiC	pulmonary alveolar:	n/a
43	chr14:71275631-71275681	HNPCEpiC	eye:	n/a
44	chr14:71275631-71275681	PANC-1	pancreas:	n/a
45	chr14:71275631-71275681	AG10803	skin:	n/a
46	chr14:71275631-71275681	HepG2	liver:	n/a
47	chr14:71275631-71275681	HUVEC	blood vessel:	n/a
48	chr14:71275631-71275681	HCM	heart:	n/a
49	chr14:71275631-71275681	PrEC	prostate:	n/a
50	chr14:71275631-71275681	ovcar-3	ovarian:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
2	chr14:71076190..71078982-chr14:71275139..71277878,2	MCF-7	breast:
3	chr12:53399239..53400858-chr14:71275577..71277135,2	MCF-7	breast:
4	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
5	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259153	TF binding region
ENSG00000259153	CpG island
ENSG00000133985	Chromatin interaction
ENSG00000063046	Chromatin interaction
ENSG00000259115	Chromatin interaction
ENSG00000240837	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000245466	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv3375447	chr14:71274499-71276497	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3376635	chr14:71275024-71277572	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71273000-71280600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:71274200-71278800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:71274200-71279400	Active TSS	HMEC	breast
4	chr14:71274400-71276800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr14:71274400-71277600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:71274400-71277800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr14:71274400-71277800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:71274400-71278200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:71274600-71275800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr14:71274600-71276000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:71274600-71277200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr14:71274600-71277200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:71274600-71277200	Active TSS	Psoas Muscle	Psoas
14	chr14:71274600-71277600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:71274600-71277600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:71274600-71277800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:71274600-71277800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:71274600-71279400	Active TSS	Esophagus	oesophagus
19	chr14:71274800-71275800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr14:71274800-71276400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:71274800-71276800	Active TSS	Brain Angular Gyrus	brain
22	chr14:71274800-71277000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
23	chr14:71274800-71277400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:71274800-71277400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:71274800-71277400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr14:71274800-71277600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:71274800-71277600	Active TSS	Brain Anterior Caudate	brain
28	chr14:71274800-71277800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:71274800-71277800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:71274800-71278200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr14:71274800-71278600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr14:71274800-71279400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr14:71275000-71275800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:71275000-71275800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr14:71275000-71276000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr14:71275000-71276000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:71275000-71276000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:71275000-71276400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
39	chr14:71275000-71276600	Active TSS	Primary T cells from cord blood	blood
40	chr14:71275000-71276600	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr14:71275000-71276600	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr14:71275000-71276600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr14:71275000-71276600	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr14:71275000-71276600	Bivalent/Poised TSS	Osteobl	bone
45	chr14:71275000-71276800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:71275000-71276800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr14:71275000-71276800	Active TSS	Small Intestine	intestine
48	chr14:71275000-71276800	Active TSS	Hela-S3	cervix
49	chr14:71275000-71276800	Active TSS	HepG2	liver
50	chr14:71275000-71277000	Active TSS	Duodenum Mucosa	Duodenum

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