Variant report

Variant	rs1711972
Chromosome Location	chr6:1389188-1389189
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:1388958-1390677	IMR90	lung:	n/a	chr6:1389407-1389417
2	SUZ12	chr6:1388316-1389983	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr6:1388324-1390160	HEK293-T-REx	kidney:	n/a	chr6:1389597-1389606 chr6:1388635-1388644 chr6:1388634-1388655
4	CTBP2	chr6:1389053-1391565	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr6:1388332-1389714	IMR90	lung:	n/a	n/a
6	CHD1	chr6:1388277-1394777	IMR90	lung:	n/a	chr6:1389414-1389424

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:1389146-1389196	GM06990	blood:	n/a
2	chr6:1389167-1389217	CMK	blood:	n/a
3	chr6:1389146-1389196	Hepatocyte	liver:	n/a
4	chr6:1389167-1389217	RPTEC	kidney:	n/a
5	chr6:1389167-1389217	HCPEpiC	choroid plexus:	n/a
6	chr6:1389167-1389217	HUVEC	blood vessel:	n/a
7	chr6:1389167-1389217	PFSK-1	brain:	n/a
8	chr6:1389146-1389196	PrEC	prostate:	n/a
9	chr6:1389167-1389217	NH-A	brain:	n/a
10	chr6:1389167-1389217	SK-N-SH_RA	brain:	n/a
11	chr6:1389146-1389196	PANC-1	pancreas:	n/a
12	chr6:1389146-1389196	HAEpiC	amniotic membrane:	n/a
13	chr6:1389167-1389217	HRE	kidney:	n/a
14	chr6:1389146-1389196	SK-N-SH	brain:	n/a
15	chr6:1389146-1389196	HCT-116	colon:	n/a
16	chr6:1389146-1389196	HRPEpiC	eye:	n/a
17	chr6:1389146-1389196	BE2_C	brain:	n/a
18	chr6:1389146-1389196	GM12891	blood:	n/a
19	chr6:1389167-1389217	SAEC	small airway:	n/a
20	chr6:1389146-1389196	Hela-S3	cervix:	n/a
21	chr6:1389167-1389217	SK-N-SH	brain:	n/a
22	chr6:1389167-1389217	PANC-1	pancreas:	n/a
23	chr6:1389167-1389217	MCF-7	breast:	n/a
24	chr6:1389146-1389196	HIPEpiC	eye:	n/a
25	chr6:1389167-1389217	HNPCEpiC	eye:	n/a
26	chr6:1389167-1389217	Hela-S3	cervix:	n/a
27	chr6:1389167-1389217	HEEpiC	esophagus:	n/a
28	chr6:1389167-1389217	AG04450	lung:	fetal
29	chr6:1389167-1389217	NT2-D1	testis:	n/a
30	chr6:1389146-1389196	U87	brain:	n/a
31	chr6:1389146-1389196	HCM	heart:	n/a
32	chr6:1389167-1389217	GM12878	blood:	n/a
33	chr6:1389167-1389217	HMEC	breast:	n/a
34	chr6:1389146-1389196	NHDF-neo	bronchial:	n/a
35	chr6:1389167-1389217	MCF10A-Er-Src	breast:	n/a
36	chr6:1389146-1389196	SAEC	small airway:	n/a
37	chr6:1389167-1389217	NHDF-neo	bronchial:	n/a
38	chr6:1389167-1389217	LNCaP	prostate:	n/a
39	chr6:1389167-1389217	BJ	skin:	n/a
40	chr6:1389167-1389217	NHBE	bronchial:	n/a
41	chr6:1389146-1389196	SKMC	muscle:	n/a
42	chr6:1389146-1389196	MCF-7	breast:	n/a
43	chr6:1389146-1389196	H1-hESC	embryonic stem cell:	embryo
44	chr6:1389146-1389196	PFSK-1	brain:	n/a
45	chr6:1389167-1389217	GM12892	blood:	n/a
46	chr6:1389146-1389196	BJ	skin:	n/a
47	chr6:1389167-1389217	A549	lung:	n/a
48	chr6:1389167-1389217	Caco-2	colon:	n/a
49	chr6:1389146-1389196	AG10803	skin:	n/a
50	chr6:1389167-1389217	AG04449	skin:	fetal

No data

Variant related genes	Relation type
ENSG00000261730	TF binding region
FOXF2	TF binding region
ENSG00000261730	CpG island
FOXF2	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv883369	chr6:1244837-1416849	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1017614	chr6:1248650-1423502	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1029972	chr6:1307337-1391814	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1015744	chr6:1307337-1395551	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1027053	chr6:1307337-1397924	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1027089	chr6:1313404-1391814	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1031351	chr6:1313404-1395551	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1028654	chr6:1313404-1397924	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1022280	chr6:1313404-1406015	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv538087	chr6:1313404-1406015	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv883370	chr6:1349828-1426790	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv917248	chr6:1365437-1627813	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv883371	chr6:1374277-1416849	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv883372	chr6:1374277-1426790	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
18	esv3340220	chr6:1388928-1391901	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	n/a
19	esv3326377	chr6:1388978-1391526	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1385600-1389400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:1386800-1389200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:1387000-1389400	Active TSS	Rectal Smooth Muscle	rectum
4	chr6:1387200-1389800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr6:1387400-1390800	Bivalent/Poised TSS	Colonic Mucosa	Colon
6	chr6:1387600-1390800	Active TSS	NHLF	lung
7	chr6:1387800-1389200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr6:1387800-1389200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr6:1387800-1389400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr6:1387800-1389600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:1387800-1389600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
12	chr6:1387800-1389600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr6:1387800-1392800	Active TSS	Colon Smooth Muscle	Colon
14	chr6:1388000-1389200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:1388000-1389200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
16	chr6:1388000-1389200	Weak transcription	Gastric	stomach
17	chr6:1388000-1389400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr6:1388000-1389400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:1388000-1389400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:1388000-1389400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:1388000-1389400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr6:1388000-1389600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:1388000-1389600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr6:1388000-1389600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:1388000-1389600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:1388000-1390600	Enhancers	Spleen	Spleen
27	chr6:1388000-1395200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
28	chr6:1388200-1389200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:1388200-1394400	Bivalent/Poised TSS	Fetal Lung	lung
30	chr6:1388400-1389600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:1388400-1389600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:1388400-1389600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:1388400-1389600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr6:1388400-1389800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:1388400-1389800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr6:1388400-1390000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr6:1388400-1390600	Active TSS	Lung	lung
38	chr6:1388400-1391400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
39	chr6:1388600-1389200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:1388600-1389200	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr6:1388600-1389200	Bivalent Enhancer	HepG2	liver
42	chr6:1388600-1389200	Bivalent Enhancer	NH-A	brain
43	chr6:1388600-1389400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:1388600-1389400	Enhancers	A549	lung
45	chr6:1388600-1389600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr6:1388600-1389600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
47	chr6:1388600-1389600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr6:1388600-1389600	Bivalent Enhancer	Fetal Heart	heart
49	chr6:1388600-1389600	Bivalent Enhancer	Placenta	Placenta
50	chr6:1388600-1390400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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