Variant report

Variant	rs55983022
Chromosome Location	chr1:75601193-75601194
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	CHD1	chr1:75600584-75601506	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr1:75601040-75601198	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr1:75599429-75602521	H1-hESC	embryonic stem cell:	n/a	chr1:75602025-75602038 chr1:75602438-75602451 chr1:75601080-75601088 chr1:75602026-75602037 chr1:75599664-75599677
4	CTCF	chr1:75601120-75601270	SK-N-SH_RA	brain:	n/a	n/a
5	KAP1	chr1:75599260-75601213	HEK293	kidney:	n/a	chr1:75599925-75599933
6	MAX	chr1:75600389-75601258	H1-hESC	embryonic stem cell:	n/a	chr1:75600890-75600897
7	TCF12	chr1:75601063-75601324	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:75599935-75602562	H1-neurons	neurons:	n/a	n/a
9	SUZ12	chr1:75594519-75601637	NT2-D1	testis:	n/a	n/a
10	ZNF143	chr1:75600525-75601410	H1-hESC	embryonic stem cell:	n/a	n/a
11	SUZ12	chr1:75600117-75601296	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF12	chr1:75600709-75601237	A549	lung:	n/a	n/a
13	BACH1	chr1:75600673-75601279	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr1:75599470-75601453	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:75596503-75602546	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr1:75601184-75601210	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000224127	TF binding region
LHX8	TF binding region
ENSG00000224149	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]
rs4949838	0.86[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	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75598800-75603200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:75598800-75603600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:75599400-75601400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:75599400-75603000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:75599600-75603400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:75600000-75601800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:75600000-75602600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:75600200-75601400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:75600200-75601400	Flanking Active TSS	Right Ventricle	heart
10	chr1:75600200-75601600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr1:75600200-75601800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:75600200-75602600	Bivalent Enhancer	Spleen	Spleen
13	chr1:75600200-75602600	Bivalent/Poised TSS	A549	lung
14	chr1:75600200-75602800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:75600200-75603200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr1:75600400-75601200	Bivalent Enhancer	Fetal Stomach	stomach
17	chr1:75600400-75601400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:75600400-75601600	Bivalent Enhancer	Fetal Heart	heart
19	chr1:75600400-75602600	Bivalent Enhancer	Fetal Brain Male	brain
20	chr1:75600600-75601200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:75600600-75601200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:75600600-75601200	Flanking Bivalent TSS/Enh	Liver	Liver
23	chr1:75600600-75601200	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr1:75600600-75601200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr1:75600600-75601400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr1:75600600-75601400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:75600600-75601400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:75600600-75601400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr1:75600600-75601400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr1:75600600-75601400	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr1:75600600-75601600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr1:75600600-75601600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
33	chr1:75600600-75601600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr1:75600600-75601600	Enhancers	Gastric	stomach
35	chr1:75600600-75601600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr1:75600600-75601800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr1:75600600-75601800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr1:75600600-75602000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr1:75600600-75602000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:75600600-75602800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr1:75600600-75602800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:75600600-75603800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:75600800-75601200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:75600800-75601200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
45	chr1:75600800-75601200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:75600800-75601200	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
47	chr1:75600800-75601200	Flanking Bivalent TSS/Enh	Ovary	ovary
48	chr1:75600800-75601200	Flanking Active TSS	Right Atrium	heart
49	chr1:75600800-75601400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr1:75600800-75601400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood

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