Variant report

Variant	rs76990826
Chromosome Location	chr6:69344176-69344177
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	EP300	chr6:69344018-69344602	K562	blood:	n/a	n/a
2	RAD21	chr6:69342384-69347457	SK-N-SH	brain:	n/a	chr6:69345907-69345917 chr6:69345020-69345034 chr6:69344689-69344699 chr6:69343839-69343849 chr6:69345328-69345338
3	RFX5	chr6:69342558-69347581	SK-N-SH	brain:	n/a	chr6:69344290-69344305 chr6:69346927-69346936 chr6:69344290-69344305
4	GATA3	chr6:69343965-69344343	SH-SY5Y	brain:	n/a	n/a
5	POLR2A	chr6:69343624-69345670	H1-neurons	neurons:	n/a	n/a
6	TBL1XR1	chr6:69343992-69344519	K562	blood:	n/a	n/a
7	REST	chr6:69343340-69345936	H1-neurons	neurons:	n/a	n/a
8	NRF1	chr6:69344071-69345747	SK-N-SH	brain:	n/a	chr6:69345080-69345091 chr6:69345129-69345140 chr6:69345027-69345036 chr6:69345146-69345157 chr6:69345354-69345361
9	POLR2A	chr6:69343604-69345662	H1-neurons	neurons:	n/a	n/a
10	ZNF384	chr6:69343863-69344643	K562	blood:	n/a	chr6:69344238-69344246
11	JUND	chr6:69343982-69345484	K562	blood:	n/a	chr6:69345026-69345035
12	GATA2	chr6:69343638-69344834	SH-SY5Y	brain:	n/a	n/a
13	IRF1	chr6:69344145-69344685	K562	blood:	n/a	chr6:69344619-69344633 chr6:69344650-69344659 chr6:69344334-69344345 chr6:69344333-69344347 chr6:69344623-69344633
14	RCOR1	chr6:69343917-69344195	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL713998.1-2	chr6:69344077-69344216	ENSG00000230910.1
2	lnc-AL713998.1-2	chr6:69342555-69344919	ENSG00000230910.2
3	lnc-AL713998.1-2	chr6:69344077-69344611	NONHSAT113412
4	lnc-AL713998.1-2	chr6:69343940-69344888	NONHSAT113409
5	lnc-AL713998.1-2	chr6:69343940-69344888	NONHSAT113414
6	lnc-AL713998.1-2	chr6:69344077-69344985	NONHSAT113407
7	lnc-AL713998.1-2	chr6:69344077-69345052	NONHSAT113413

Variant related genes	Relation type
BAI3	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830680	chr6:69192214-69351103	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3340533	chr6:69343856-69346404	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	esv3321603	chr6:69344081-69346129	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69342600-69349600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:69342600-69351000	Active TSS	Brain Angular Gyrus	brain
3	chr6:69342800-69344200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr6:69342800-69348000	Active TSS	Fetal Brain Male	brain
5	chr6:69343000-69348000	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr6:69343200-69344200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:69343200-69344400	Bivalent/Poised TSS	Fetal Lung	lung
8	chr6:69343200-69348600	Active TSS	Brain Cingulate Gyrus	brain
9	chr6:69343200-69348800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:69343200-69349200	Active TSS	Brain Germinal Matrix	brain
11	chr6:69343200-69351200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:69343200-69352000	Active TSS	Brain Anterior Caudate	brain
13	chr6:69343400-69348400	Active TSS	Fetal Stomach	stomach
14	chr6:69343400-69349600	Active TSS	Fetal Brain Female	brain
15	chr6:69343600-69344200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr6:69343600-69344200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr6:69343600-69344400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:69343600-69344800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:69343600-69345800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr6:69343600-69345800	Active TSS	Rectal Smooth Muscle	rectum
21	chr6:69343600-69346200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr6:69343600-69346400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:69343600-69346600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:69343600-69346800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:69343600-69347200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:69343600-69347400	Active TSS	Brain Substantia Nigra	brain
27	chr6:69343600-69348200	Active TSS	Right Atrium	heart
28	chr6:69343800-69344200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
32	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
33	chr6:69343800-69344200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:69343800-69344200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
36	chr6:69343800-69344200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr6:69343800-69344200	Flanking Active TSS	K562	blood
38	chr6:69343800-69344400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
39	chr6:69343800-69344400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr6:69343800-69344400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr6:69343800-69344400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr6:69343800-69344400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:69343800-69344400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr6:69343800-69344800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr6:69343800-69345000	Active TSS	Colonic Mucosa	Colon
46	chr6:69343800-69345200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:69343800-69345600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
48	chr6:69343800-69345800	Flanking Active TSS	Liver	Liver
49	chr6:69343800-69346200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
50	chr6:69343800-69346400	Active TSS	H9 Cell Line	embryonic stem cell

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