Variant report

Variant	rs75912037
Chromosome Location	chr6:80657423-80657424
allele	C/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	ATF3	chr6:80657092-80657471	H1-hESC	embryonic stem cell:	n/a	chr6:80657435-80657444
2	POLR2A	chr6:80656928-80657440	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr6:80656887-80657532	ProgFib	skin:	n/a	n/a
4	SIN3A	chr6:80656049-80657798	H1-hESC	embryonic stem cell:	n/a	chr6:80656790-80656801 chr6:80656822-80656831 chr6:80657273-80657286 chr6:80657516-80657529 chr6:80657008-80657017
5	USF1	chr6:80656591-80657717	SK-N-SH	brain:	n/a	chr6:80656753-80656769 chr6:80657011-80657027 chr6:80657307-80657318 chr6:80656815-80656831
6	POLR2A	chr6:80655958-80657860	H1-neurons	neurons:	n/a	n/a
7	EGR1	chr6:80656989-80657671	MCF-7	breast:	n/a	chr6:80657322-80657336 chr6:80657429-80657438
8	TAF1	chr6:80657030-80657449	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr6:80657111-80657431	HUVEC	blood vessel:	n/a	n/a
10	MYC	chr6:80657188-80657541	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:80657040-80657455	MCF10A-Er-Src	breast:	n/a	n/a
12	JUN	chr6:80657416-80657471	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr6:80656836-80657828	SK-N-MC	brain:	n/a	n/a
14	EGR1	chr6:80657000-80657657	ECC-1	luminal epithelium:	n/a	chr6:80657322-80657336 chr6:80657429-80657438
15	CTBP2	chr6:80656206-80657733	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:80656013-80657852	H1-neurons	neurons:	n/a	n/a
17	USF1	chr6:80656964-80657642	ECC-1	luminal epithelium:	n/a	chr6:80657011-80657027 chr6:80657307-80657318
18	TAF1	chr6:80656450-80657762	H1-neurons	neurons:	n/a	n/a
19	TAF1	chr6:80657020-80657524	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr6:80657046-80657598	A549	lung:	n/a	n/a
21	USF1	chr6:80657032-80657548	SK-N-SH_RA	brain:	n/a	chr6:80657307-80657318
22	ZNF143	chr6:80657140-80657541	H1-hESC	embryonic stem cell:	n/a	n/a
23	HDAC2	chr6:80657364-80657802	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr6:80656984-80657750	ECC-1	luminal epithelium:	n/a	n/a
25	KAP1	chr6:80657389-80657991	HEK293	kidney:	n/a	n/a
26	YY1	chr6:80657009-80657432	SK-N-SH_RA	brain:	n/a	chr6:80657109-80657118 chr6:80657153-80657162 chr6:80657151-80657162 chr6:80657150-80657159 chr6:80657085-80657096
27	SP4	chr6:80657115-80657504	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:80657037-80657450	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr6:80657109-80657485	GM12878	blood:	n/a	n/a
30	MAZ	chr6:80657159-80657438	GM12878	blood:	n/a	n/a
31	E2F4	chr6:80657290-80657449	MCF10A-Er-Src	breast:	n/a	chr6:80657429-80657438
32	EGR1	chr6:80656813-80657622	MCF-7	breast:	n/a	chr6:80657322-80657336 chr6:80657429-80657438
33	MXI1	chr6:80656919-80658234	IMR90	lung:	n/a	n/a
34	MXI1	chr6:80657090-80657869	H1-hESC	embryonic stem cell:	n/a	n/a
35	USF1	chr6:80657093-80657476	A549	lung:	n/a	chr6:80657307-80657318
36	ATF3	chr6:80657155-80657502	H1-hESC	embryonic stem cell:	n/a	chr6:80657435-80657444
37	GTF2F1	chr6:80657122-80657717	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr6:80657062-80657589	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:80656946-80657572	U87	brain:	n/a	n/a
40	MYC	chr6:80657022-80657596	MCF-7	breast:	n/a	n/a
41	JUND	chr6:80657035-80657766	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr6:80656422-80657701	SK-N-SH	brain:	n/a	n/a
43	E2F6	chr6:80656690-80657999	H1-hESC	embryonic stem cell:	n/a	chr6:80657279-80657289 chr6:80657153-80657162 chr6:80657151-80657161 chr6:80656753-80656762 chr6:80657429-80657438
44	E2F6	chr6:80657136-80657561	A549	lung:	n/a	chr6:80657279-80657289 chr6:80657153-80657162 chr6:80657151-80657161 chr6:80657429-80657438
45	REST	chr6:80655877-80657936	H1-neurons	neurons:	n/a	chr6:80657244-80657262 chr6:80657516-80657529 chr6:80656573-80656586 chr6:80656821-80656831
46	E2F6	chr6:80656960-80657622	A549	lung:	n/a	chr6:80657279-80657289 chr6:80657153-80657162 chr6:80657151-80657161 chr6:80657429-80657438
47	CREB1	chr6:80657019-80657708	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr6:80657183-80657755	H1-hESC	embryonic stem cell:	n/a	n/a
49	EGR1	chr6:80657217-80657438	GM12878	blood:	n/a	chr6:80657322-80657336 chr6:80657429-80657438
50	MAX	chr6:80656980-80657732	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:80657415-80657465	HAEpiC	amniotic membrane:	n/a
2	chr6:80657412-80657462	PFSK-1	brain:	n/a
3	chr6:80657415-80657465	PFSK-1	brain:	n/a
4	chr6:80657415-80657465	MCF-7	breast:	n/a
5	chr6:80657412-80657462	AG10803	skin:	n/a
6	chr6:80657415-80657465	RPTEC	kidney:	n/a
7	chr6:80657412-80657462	BE2_C	brain:	n/a
8	chr6:80657415-80657465	SAEC	small airway:	n/a
9	chr6:80657415-80657465	CMK	blood:	n/a
10	chr6:80657415-80657465	A549	lung:	n/a
11	chr6:80657412-80657462	AG09319	gingival:	n/a
12	chr6:80657412-80657462	IMR90	lung:	fetal
13	chr6:80657415-80657465	K562	blood:	n/a
14	chr6:80657415-80657465	ovcar-3	ovarian:	n/a
15	chr6:80657412-80657462	SK-N-SH	brain:	n/a
16	chr6:80657415-80657465	HCPEpiC	choroid plexus:	n/a
17	chr6:80657415-80657465	PANC-1	pancreas:	n/a
18	chr6:80657415-80657465	LNCaP	prostate:	n/a
19	chr6:80657415-80657465	BE2_C	brain:	n/a
20	chr6:80657412-80657462	HMEC	breast:	n/a
21	chr6:80657415-80657465	HL-60	blood:	n/a
22	chr6:80657415-80657465	HepG2	liver:	n/a
23	chr6:80657415-80657465	HCF	heart:	n/a
24	chr6:80657412-80657462	ECC-1	luminal epithelium:	n/a
25	chr6:80657412-80657462	SK-N-MC	brain:	n/a
26	chr6:80657412-80657462	NH-A	brain:	n/a
27	chr6:80657412-80657462	HNPCEpiC	eye:	n/a
28	chr6:80657412-80657462	AG09309	skin:	n/a
29	chr6:80657412-80657462	PANC-1	pancreas:	n/a
30	chr6:80657415-80657465	HUVEC	blood vessel:	n/a
31	chr6:80657415-80657465	GM12891	blood:	n/a
32	chr6:80657412-80657462	Jurkat	blood:	n/a
33	chr6:80657415-80657465	AoSMC	blood vessel:	n/a
34	chr6:80657412-80657462	GM19239	blood:	n/a
35	chr6:80657415-80657465	NT2-D1	testis:	n/a
36	chr6:80657412-80657462	HCM	heart:	n/a
37	chr6:80657412-80657462	MCF-7	breast:	n/a
38	chr6:80657415-80657465	U87	brain:	n/a
39	chr6:80657412-80657462	HEK293	kidney:	embryo
40	chr6:80657412-80657462	HRE	kidney:	n/a
41	chr6:80657415-80657465	Hepatocyte	liver:	n/a
42	chr6:80657412-80657462	ProgFib	skin:	n/a
43	chr6:80657415-80657465	AG10803	skin:	n/a
44	chr6:80657415-80657465	NHBE	bronchial:	n/a
45	chr6:80657412-80657462	HCT-116	colon:	n/a
46	chr6:80657412-80657462	Caco-2	colon:	n/a
47	chr6:80657412-80657462	HCPEpiC	choroid plexus:	n/a
48	chr6:80657412-80657462	NHBE	bronchial:	n/a
49	chr6:80657415-80657465	IMR90	lung:	fetal
50	chr6:80657412-80657462	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80656144..80658220-chr6:80712686..80714230,2	K562	blood:
2	chr1:149858428..149860800-chr6:80655814..80658112,2	MCF-7	breast:

Variant related genes	Relation type
ELOVL4	TF binding region
ELOVL4	CpG island
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000112742	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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
5	nsv934076	chr6:80656862-80657630	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv933415	chr6:80657182-80657630	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv933704	chr6:80657182-80674202	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80654400-80657600	Active TSS	Brain Anterior Caudate	brain
2	chr6:80654800-80657800	Active TSS	Brain Angular Gyrus	brain
3	chr6:80655600-80657600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:80655600-80659400	Active TSS	Thymus	Thymus
5	chr6:80655800-80657600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:80655800-80657600	Active TSS	Brain Hippocampus Middle	brain
7	chr6:80655800-80657600	Active TSS	Fetal Brain Male	brain
8	chr6:80655800-80657800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:80655800-80657800	Active TSS	Stomach Smooth Muscle	stomach
10	chr6:80655800-80658000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:80656000-80657600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:80656000-80657600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:80656000-80657600	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:80656000-80657600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:80656000-80657600	Active TSS	HSMM	muscle
16	chr6:80656000-80657800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr6:80656000-80657800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:80656000-80657800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:80656000-80657800	Active TSS	Aorta	Aorta
20	chr6:80656000-80657800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:80656000-80658000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:80656200-80657600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:80656200-80657600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:80656200-80657600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr6:80656200-80657600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:80656200-80657600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:80656200-80657600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:80656200-80657600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
29	chr6:80656200-80657600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr6:80656200-80657600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr6:80656200-80657600	Active TSS	Colon Smooth Muscle	Colon
32	chr6:80656200-80657600	Active TSS	Esophagus	oesophagus
33	chr6:80656200-80657600	Active TSS	Fetal Kidney	kidney
34	chr6:80656200-80657600	Active TSS	Ovary	ovary
35	chr6:80656200-80657600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
36	chr6:80656200-80657800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:80656200-80657800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:80656200-80657800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr6:80656200-80657800	Enhancers	Spleen	Spleen
40	chr6:80656200-80658000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:80656400-80657600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:80656400-80657600	Active TSS	Primary T cells from cord blood	blood
43	chr6:80656400-80657600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:80656400-80657600	Active TSS	Brain Substantia Nigra	brain
45	chr6:80656400-80657600	Flanking Active TSS	Pancreas	Pancrea
46	chr6:80656400-80657600	Bivalent/Poised TSS	A549	lung
47	chr6:80656400-80657600	Active TSS	NH-A	brain
48	chr6:80656400-80657800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr6:80656400-80657800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
50	chr6:80656600-80657600	Active TSS	HUES6 Cell Line	embryonic stem cell

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