Variant report

Variant	rs536018024
Chromosome Location	chr6:71997729-71997730
allele	C/T
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	POU2F2	chr6:71997694-71998083	GM12878	blood:	n/a	n/a
2	MTA3	chr6:71997607-71998195	GM12878	blood:	n/a	n/a
3	NR3C1	chr6:71997458-71997786	A549	lung:	n/a	chr6:71997744-71997751
4	POLR2A	chr6:71997669-71998764	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr6:71997641-71998711	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr6:71997660-71997810	AG04449	skin:	n/a	n/a
7	ZNF263	chr6:71997455-71999152	HEK293-T-REx	kidney:	n/a	chr6:71998405-71998414 chr6:71997726-71997735
8	SP1	chr6:71997671-71998138	GM12878	blood:	n/a	chr6:71998082-71998094 chr6:71998079-71998093 chr6:71998082-71998094 chr6:71998083-71998092 chr6:71998089-71998099
9	GATA2	chr6:71997714-71998283	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr6:71997728-71998905	HUVEC	blood vessel:	n/a	n/a
11	RUNX3	chr6:71997676-71998178	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:71996908-71999723	Raji	blood:	n/a	n/a
13	EBF1	chr6:71997691-71998665	GM12878	blood:	n/a	chr6:71998367-71998378 chr6:71998367-71998376
14	MXI1	chr6:71997609-72000196	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr6:71997721-71998228	T-47D	breast:	n/a	n/a
16	KAP1	chr6:71997034-71998298	HEK293	kidney:	n/a	n/a
17	GATA2	chr6:71997715-71998368	SH-SY5Y	brain:	n/a	n/a
18	PAX5	chr6:71997647-71998228	GM12878	blood:	n/a	n/a
19	RUNX3	chr6:71997606-71998181	GM12878	blood:	n/a	n/a
20	EP300	chr6:71997719-71998193	GM12878	blood:	n/a	chr6:71998001-71998010
21	EBF1	chr6:71997727-71998602	GM12878	blood:	n/a	chr6:71998367-71998378 chr6:71998367-71998376
22	BHLHE40	chr6:71997710-71998207	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
OGFRL1	TF binding region
ENSG00000232295	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1837685	chr6:71997278-71998880	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv1792197	chr6:71997278-71999404	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1818720	chr6:71997278-71999404	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1830597	chr6:71997278-71999404	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1795873	chr6:71997278-72005794	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1841286	chr6:71997278-72006512	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3424106	chr6:71997456-72000004	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3385640	chr6:71997681-71999879	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71988400-71997800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:71991600-71997800	Weak transcription	Lung	lung
3	chr6:71992000-71997800	Weak transcription	Esophagus	oesophagus
4	chr6:71994200-71997800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:71994800-71997800	Weak transcription	Gastric	stomach
6	chr6:71996800-71997800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:71996800-71997800	Enhancers	Fetal Thymus	thymus
8	chr6:71996800-71997800	Enhancers	Stomach Mucosa	stomach
9	chr6:71996800-71998000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr6:71996800-71998200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr6:71997000-71997800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:71997000-71997800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:71997000-71997800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:71997000-71997800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:71997000-71997800	Enhancers	HMEC	breast
16	chr6:71997000-71998000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:71997000-71998000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr6:71997000-71998400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr6:71997000-71998400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:71997000-71999800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:71997000-72002000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr6:71997200-71997800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr6:71997200-71997800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:71997200-71997800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:71997200-71997800	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr6:71997200-71997800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr6:71997200-71997800	Enhancers	Fetal Muscle Leg	muscle
28	chr6:71997200-71997800	Enhancers	HSMM	muscle
29	chr6:71997200-71998400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr6:71997200-71998400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:71997200-72000400	Active TSS	A549	lung
32	chr6:71997400-71997800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr6:71997400-71997800	Enhancers	Colonic Mucosa	Colon
34	chr6:71997400-71997800	Enhancers	Fetal Stomach	stomach
35	chr6:71997400-71997800	Enhancers	Right Ventricle	heart
36	chr6:71997400-71998000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:71997400-71998000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr6:71997400-71998000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr6:71997400-71998000	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr6:71997400-71998000	Enhancers	Small Intestine	intestine
41	chr6:71997400-71998200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr6:71997400-71998200	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr6:71997400-71998200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:71997400-71998200	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr6:71997400-71998200	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr6:71997400-71998400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr6:71997400-71999400	Active TSS	Brain Anterior Caudate	brain
48	chr6:71997400-72000000	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:71997400-72000400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:71997600-71997800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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