Variant report

Variant	rs74156111
Chromosome Location	chr1:210410882-210410883
allele	G/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	chr1:210410143-210410903	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr1:210410090-210410984	SK-N-SH	brain:	n/a	n/a
3	KAP1	chr1:210409052-210410904	HEK293	kidney:	n/a	chr1:210409520-210409529
4	POLR2A	chr1:210409602-210411171	H1-neurons	neurons:	n/a	n/a
5	REST	chr1:210410325-210411062	H1-neurons	neurons:	n/a	n/a
6	ZNF263	chr1:210409718-210410926	HEK293-T-REx	kidney:	n/a	n/a
7	GATA3	chr1:210410170-210410951	SK-N-SH	brain:	n/a	n/a
8	REST	chr1:210410102-210411287	H1-neurons	neurons:	n/a	n/a
9	TAF1	chr1:210410299-210410989	H1-neurons	neurons:	n/a	n/a
10	NFIC	chr1:210410123-210410987	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr1:210410176-210410938	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
SERTAD4	TF binding region
SERTAD4-AS1	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs74156106	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS 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 target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210407800-210411600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:210407800-210424000	Weak transcription	Colonic Mucosa	Colon
3	chr1:210407800-210424000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:210407800-210424200	Weak transcription	Pancreas	Pancrea
5	chr1:210408000-210411600	Enhancers	Thymus	Thymus
6	chr1:210408000-210418200	Weak transcription	Esophagus	oesophagus
7	chr1:210408000-210424000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:210408200-210412600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:210408200-210414800	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:210408400-210412800	Weak transcription	HMEC	breast
11	chr1:210408600-210413800	Enhancers	Fetal Heart	heart
12	chr1:210409200-210411000	Enhancers	Aorta	Aorta
13	chr1:210409400-210411800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:210409600-210411600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:210409600-210412000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:210409600-210412000	Enhancers	Ovary	ovary
17	chr1:210409600-210412400	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:210409600-210414000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:210409600-210414200	Enhancers	NHDF-Ad	bronchial
20	chr1:210409800-210411000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr1:210409800-210411600	Enhancers	Right Ventricle	heart
22	chr1:210409800-210411800	Enhancers	HSMMtube	muscle
23	chr1:210409800-210412000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr1:210409800-210414000	Enhancers	Fetal Lung	lung
25	chr1:210409800-210414200	Enhancers	NHLF	lung
26	chr1:210410000-210411000	Bivalent Enhancer	Fetal Brain Male	brain
27	chr1:210410000-210411000	Flanking Active TSS	Osteobl	bone
28	chr1:210410000-210411200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:210410000-210411200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:210410000-210411400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:210410000-210411600	Enhancers	Left Ventricle	heart
32	chr1:210410000-210411600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:210410000-210411800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr1:210410000-210411800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:210410200-210411000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:210410200-210411000	Enhancers	Stomach Mucosa	stomach
37	chr1:210410200-210411200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:210410200-210411400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:210410200-210411400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr1:210410200-210411400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:210410200-210411600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:210410200-210411600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:210410200-210411600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:210410200-210411600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr1:210410200-210411800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:210410200-210412000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:210410200-210412000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:210410200-210412000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr1:210410200-210413400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:210410400-210411400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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