Variant report

Variant	rs61780944
Chromosome Location	chr1:67217830-67217831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr1:67217825-67218252	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:67217800-67217950	HCM	heart:	n/a	n/a
3	POLR2A	chr1:67217710-67218137	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr1:67217585-67218316	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:67217677-67217847	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr1:67217759-67218137	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr1:67217804-67218361	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr1:67217710-67218295	H1-hESC	embryonic stem cell:	n/a	chr1:67218176-67218195
9	GATA2	chr1:67217653-67218086	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr1:67217588-67218241	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr1:67217793-67218139	H1-hESC	embryonic stem cell:	n/a	chr1:67218011-67218029
12	POLR2A	chr1:67217640-67218046	ProgFib	skin:	n/a	n/a
13	POLR2A	chr1:67217678-67218632	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:67217595-67218335	HUVEC	blood vessel:	n/a	n/a
15	E2F6	chr1:67217534-67218417	H1-hESC	embryonic stem cell:	n/a	chr1:67217885-67217892 chr1:67217885-67217892 chr1:67217885-67217892
16	TBP	chr1:67217629-67218506	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr1:67217553-67217953	H1-hESC	embryonic stem cell:	n/a	chr1:67217737-67217746
18	RAD21	chr1:67217710-67218197	H1-hESC	embryonic stem cell:	n/a	chr1:67218020-67218032 chr1:67218009-67218028
19	RAD21	chr1:67217713-67218335	H1-hESC	embryonic stem cell:	n/a	chr1:67218020-67218032 chr1:67218009-67218028
20	POLR2A	chr1:67217492-67218275	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr1:67217659-67218172	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr1:67217543-67218474	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:67217570-67218352	HUVEC	blood vessel:	n/a	n/a
24	MAX	chr1:67217602-67218335	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr1:67217763-67218231	H1-hESC	embryonic stem cell:	n/a	chr1:67218020-67218032 chr1:67218009-67218028
26	E2F6	chr1:67217383-67218567	H1-hESC	embryonic stem cell:	n/a	chr1:67217885-67217892 chr1:67217885-67217892 chr1:67217885-67217892
27	SPI1	chr1:67217714-67218175	HL-60	blood:	n/a	chr1:67217793-67217806 chr1:67217858-67217871
28	TEAD4	chr1:67217514-67218232	H1-hESC	embryonic stem cell:	n/a	chr1:67217737-67217746
29	POLR2A	chr1:67217760-67218071	HUVEC	blood vessel:	n/a	n/a
30	SPI1	chr1:67217805-67218052	GM12891	blood:	n/a	chr1:67217858-67217871
31	MAX	chr1:67217568-67218404	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAZ	chr1:67217507-67218346	IMR90	lung:	n/a	n/a
33	POLR2A	chr1:67217697-67218338	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr1:67217604-67218457	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:67217826-67217876	MCF10A-Er-Src	breast:	n/a
2	chr1:67217826-67217876	MCF-7	breast:	n/a
3	chr1:67217826-67217876	PFSK-1	brain:	n/a
4	chr1:67217826-67217876	HMEC	breast:	n/a
5	chr1:67217826-67217876	ovcar-3	ovarian:	n/a
6	chr1:67217826-67217876	HUVEC	blood vessel:	n/a
7	chr1:67217826-67217876	HCM	heart:	n/a
8	chr1:67217826-67217876	RPTEC	kidney:	n/a
9	chr1:67217826-67217876	SAEC	small airway:	n/a
10	chr1:67217826-67217876	HNPCEpiC	eye:	n/a
11	chr1:67217826-67217876	HCT-116	colon:	n/a
12	chr1:67217826-67217876	AG09319	gingival:	n/a
13	chr1:67217826-67217876	AG04449	skin:	fetal
14	chr1:67217826-67217876	HAEpiC	amniotic membrane:	n/a
15	chr1:67217826-67217876	NB4	blood:	n/a
16	chr1:67217826-67217876	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:67217826-67217876	HRCEpiC	kidney:	n/a
18	chr1:67217826-67217876	AG10803	skin:	n/a
19	chr1:67217826-67217876	HEK293	kidney:	embryo
20	chr1:67217826-67217876	ECC-1	luminal epithelium:	n/a
21	chr1:67217826-67217876	SKMC	muscle:	n/a
22	chr1:67217826-67217876	AG09309	skin:	n/a
23	chr1:67217826-67217876	GM12891	blood:	n/a
24	chr1:67217826-67217876	SK-N-SH_RA	brain:	n/a
25	chr1:67217826-67217876	U87	brain:	n/a
26	chr1:67217826-67217876	PrEC	prostate:	n/a
27	chr1:67217826-67217876	T-47D	breast:	n/a
28	chr1:67217826-67217876	AG04450	lung:	fetal
29	chr1:67217826-67217876	NHDF-neo	bronchial:	n/a
30	chr1:67217826-67217876	K562	blood:	n/a
31	chr1:67217826-67217876	ProgFib	skin:	n/a
32	chr1:67217826-67217876	GM06990	blood:	n/a
33	chr1:67217826-67217876	HRE	kidney:	n/a
34	chr1:67217826-67217876	HRPEpiC	eye:	n/a
35	chr1:67217826-67217876	AoSMC	blood vessel:	n/a
36	chr1:67217826-67217876	NHBE	bronchial:	n/a
37	chr1:67217826-67217876	SK-N-SH	brain:	n/a
38	chr1:67217826-67217876	NT2-D1	testis:	n/a
39	chr1:67217826-67217876	Caco-2	colon:	n/a
40	chr1:67217826-67217876	GM12892	blood:	n/a
41	chr1:67217826-67217876	BJ	skin:	n/a
42	chr1:67217826-67217876	HCF	heart:	n/a
43	chr1:67217826-67217876	IMR90	lung:	fetal
44	chr1:67217826-67217876	Jurkat	blood:	n/a
45	chr1:67217826-67217876	A549	lung:	n/a
46	chr1:67217826-67217876	BE2_C	brain:	n/a
47	chr1:67217826-67217876	Hepatocyte	liver:	n/a
48	chr1:67217826-67217876	CMK	blood:	n/a
49	chr1:67217826-67217876	NH-A	brain:	n/a
50	chr1:67217826-67217876	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
TCTEX1D1	TF binding region
TCTEX1D1	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs41286724	1.00[AFR][1000 genomes]
rs61782760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61798708	1.00[AFR][1000 genomes];1.00[AMR][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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67217200-67218000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
2	chr1:67217200-67218000	Enhancers	Lung	lung
3	chr1:67217200-67218400	Active TSS	Brain Angular Gyrus	brain
4	chr1:67217200-67218600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:67217200-67218800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:67217200-67219000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr1:67217200-67219200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:67217200-67220400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:67217200-67220800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:67217400-67218000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr1:67217400-67218600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
12	chr1:67217400-67218800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr1:67217400-67218800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr1:67217400-67218800	Enhancers	Spleen	Spleen
15	chr1:67217400-67219000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:67217600-67218000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr1:67217600-67218000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:67217600-67218000	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr1:67217600-67218000	Bivalent Enhancer	Placenta	Placenta
20	chr1:67217600-67218000	Flanking Active TSS	NHDF-Ad	bronchial
21	chr1:67217600-67218000	Flanking Bivalent TSS/Enh	NHEK	skin
22	chr1:67217600-67218200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr1:67217600-67218200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
24	chr1:67217600-67218400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:67217600-67218400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:67217600-67218400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:67217600-67218400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:67217600-67218400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:67217600-67218400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
30	chr1:67217600-67218400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
31	chr1:67217600-67218400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:67217600-67218400	Active TSS	Brain Hippocampus Middle	brain
33	chr1:67217600-67218400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:67217600-67218400	Active TSS	Brain Substantia Nigra	brain
35	chr1:67217600-67218400	Active TSS	Colon Smooth Muscle	Colon
36	chr1:67217600-67218400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:67217600-67218400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
38	chr1:67217600-67218400	Active TSS	HSMMtube	muscle
39	chr1:67217600-67218400	Active TSS	NH-A	brain
40	chr1:67217600-67218400	Active TSS	NHLF	lung
41	chr1:67217600-67218600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:67217600-67218600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:67217600-67218600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:67217600-67218600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:67217600-67218600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:67217600-67218600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:67217600-67218600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr1:67217600-67218600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr1:67217600-67218800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:67217600-67218800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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