Variant report

Variant	rs73100928
Chromosome Location	chr1:226848385-226848386
allele	A/G
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	MYC	chr1:226848375-226848535	HUVEC	blood vessel:	n/a	n/a
2	ELF1	chr1:226848222-226848593	GM12878	blood:	n/a	chr1:226848407-226848419
3	MAX	chr1:226848292-226848677	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:226848294-226848478	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr1:226848242-226848639	NB4	blood:	n/a	n/a
6	MYC	chr1:226848340-226848581	NB4	blood:	n/a	n/a
7	CTCF	chr1:226848320-226848470	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226847991..226850832-chr1:226852889..226855644,2	MCF-7	breast:

Variant related genes	Relation type
ITPKB-IT1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12076039	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078663	0.81[AFR][1000 genomes]
rs57646605	1.00[AMR][1000 genomes]
rs58304151	1.00[AMR][1000 genomes]
rs60166938	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60541195	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662364	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100921	1.00[AMR][1000 genomes]
rs9651015	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226836800-226856200	Enhancers	Left Ventricle	heart
2	chr1:226837000-226849800	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr1:226837400-226848600	Enhancers	Right Atrium	heart
4	chr1:226837400-226856200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:226837400-226856600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:226837400-226856600	Enhancers	Brain Substantia Nigra	brain
7	chr1:226839400-226856200	Enhancers	Fetal Muscle Leg	muscle
8	chr1:226840600-226851800	Enhancers	Adipose Nuclei	Adipose
9	chr1:226840600-226852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:226840600-226852800	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:226841800-226850200	Enhancers	Psoas Muscle	Psoas
12	chr1:226841800-226856200	Enhancers	Brain Angular Gyrus	brain
13	chr1:226841800-226860600	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:226842000-226848800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:226842200-226849200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:226842200-226850600	Enhancers	Pancreas	Pancrea
17	chr1:226842200-226852400	Enhancers	Esophagus	oesophagus
18	chr1:226843200-226850200	Genic enhancers	Fetal Thymus	thymus
19	chr1:226843400-226848800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:226843400-226849800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:226843400-226850400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:226843400-226850400	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr1:226843600-226848400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:226843600-226849000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:226843600-226849600	Genic enhancers	Primary B cells from cord blood	blood
26	chr1:226843800-226854400	Enhancers	Brain Hippocampus Middle	brain
27	chr1:226844200-226850400	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr1:226844400-226850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:226844800-226849600	Weak transcription	Hela-S3	cervix
30	chr1:226844800-226852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:226845000-226848400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:226845000-226848800	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:226845000-226849000	Weak transcription	HSMM	muscle
34	chr1:226845000-226849200	Enhancers	Dnd41	blood
35	chr1:226845000-226850000	Genic enhancers	Primary T cells from cord blood	blood
36	chr1:226845200-226848400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:226845200-226848400	Weak transcription	Fetal Intestine Small	intestine
38	chr1:226845200-226849600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:226845400-226849800	Weak transcription	Osteobl	bone
40	chr1:226845400-226850200	Weak transcription	Fetal Kidney	kidney
41	chr1:226845600-226849200	Weak transcription	NH-A	brain
42	chr1:226845600-226849400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:226845600-226855600	Enhancers	Placenta	Placenta
44	chr1:226845800-226849000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr1:226845800-226849600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:226846000-226848600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:226846000-226852200	Enhancers	Right Ventricle	heart
48	chr1:226846000-226852200	Genic enhancers	Thymus	Thymus
49	chr1:226846200-226848400	Enhancers	Colon Smooth Muscle	Colon
50	chr1:226846200-226849400	Weak transcription	Fetal Brain Male	brain

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