Variant report

Variant	rs577528542
Chromosome Location	chr7:69061866-69061867
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	POLR2A	chr7:69061661-69062082	H1-neurons	neurons:	n/a	n/a
2	MXI1	chr7:69060600-69067258	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr7:69061718-69062005	T-47D	breast:	n/a	n/a
4	KAP1	chr7:69061852-69062361	HEK293	kidney:	n/a	n/a
5	RAD21	chr7:69061852-69063005	SK-N-SH_RA	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-1	chr7:69061742-69061918	XLOC_006493
2	lnc-AUTS2-1	chr7:69061156-69063004	XLOC_006142

Variant related genes	Relation type
AUTS2	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5783	chr7:69048608-69066760	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3340834	chr7:69061816-69066664	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69058400-69062000	Weak transcription	Fetal Intestine Small	intestine
2	chr7:69061200-69062000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:69061200-69062000	Enhancers	Primary hematopoietic stem cells	blood
4	chr7:69061400-69062000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:69061600-69062000	Enhancers	Brain Cingulate Gyrus	brain
6	chr7:69061600-69062000	Enhancers	Colon Smooth Muscle	Colon
7	chr7:69061600-69062000	Enhancers	Dnd41	blood
8	chr7:69061600-69062200	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr7:69061600-69062400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:69061600-69065800	Active TSS	Brain Angular Gyrus	brain
11	chr7:69061800-69062000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:69061800-69062000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr7:69061800-69062000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr7:69061800-69062000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:69061800-69062000	Enhancers	Primary B cells from peripheral blood	blood
16	chr7:69061800-69062000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:69061800-69062000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:69061800-69062000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:69061800-69062000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:69061800-69062000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:69061800-69062000	Enhancers	Brain Substantia Nigra	brain
22	chr7:69061800-69062000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:69061800-69062000	Enhancers	Fetal Muscle Leg	muscle
24	chr7:69061800-69062000	Enhancers	Fetal Stomach	stomach
25	chr7:69061800-69062000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr7:69061800-69062000	Bivalent Enhancer	A549	lung
27	chr7:69061800-69062200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr7:69061800-69062200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr7:69061800-69062200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:69061800-69062200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:69061800-69062400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr7:69061800-69062400	Active TSS	Stomach Smooth Muscle	stomach
33	chr7:69061800-69062800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:69061800-69062800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:69061800-69062800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:69061800-69063800	Active TSS	Primary T cells from cord blood	blood
37	chr7:69061800-69065200	Active TSS	Brain Hippocampus Middle	brain
38	chr7:69061800-69065200	Active TSS	Fetal Lung	lung
39	chr7:69061800-69065400	Active TSS	Aorta	Aorta
40	chr7:69061800-69065600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:69061800-69065600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:69061800-69065800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:69061800-69066000	Active TSS	Fetal Kidney	kidney
44	chr7:69061800-69066000	Active TSS	Pancreatic Islets	Pancreatic Islet

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