Variant report

Variant	rs1622451
Chromosome Location	chr1:94796141-94796142
allele	A/C
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	CTCF	chr1:94796000-94796150	NHLF	lung:	n/a	n/a
2	RAD21	chr1:94795268-94796152	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr1:94795334-94796159	A549	lung:	n/a	chr1:94795800-94795808
4	CTCF	chr1:94796060-94796210	HFF	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94793698..94796571-chr1:94797240..94800025,2	K562	blood:
2	chr1:94526654..94527659-chr1:94795235..94796181,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226835	TF binding region
ENSG00000198691	Chromatin interaction
ENSG00000226835	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1054626	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11165103	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11165114	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022859	0.97[EUR][1000 genomes]
rs12024941	0.92[EUR][1000 genomes]
rs12027548	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12031606	0.92[EUR][1000 genomes]
rs12036085	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12038745	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12039546	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12042509	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046536	0.89[EUR][1000 genomes]
rs12093742	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12562103	0.97[EUR][1000 genomes]
rs12563826	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1360365	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1576592	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1611832	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1623248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629275	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1687947	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1687950	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16928	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111408	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111419	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17111426	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111436	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1765636	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1765640	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929131	0.82[EUR][1000 genomes]
rs1999270	0.91[EUR][1000 genomes]
rs1999271	0.91[EUR][1000 genomes]
rs2130899	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391472	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35275815	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3789690	0.81[EUR][1000 genomes]
rs4543802	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847201	0.91[EUR][1000 genomes]
rs4847296	0.93[EUR][1000 genomes]
rs55961421	0.89[EUR][1000 genomes]
rs56037795	0.92[EUR][1000 genomes]
rs57666908	0.81[EUR][1000 genomes]
rs6541343	0.91[EUR][1000 genomes]
rs6541345	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6662877	0.95[EUR][1000 genomes]
rs6673491	0.93[EUR][1000 genomes]
rs6675959	0.91[EUR][1000 genomes]
rs6681827	0.91[EUR][1000 genomes]
rs66918029	0.89[EUR][1000 genomes]
rs66961454	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67180557	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67554381	0.91[EUR][1000 genomes]
rs67612304	0.97[EUR][1000 genomes]
rs67681803	0.92[EUR][1000 genomes]
rs67807923	0.98[EUR][1000 genomes]
rs68193246	0.97[EUR][1000 genomes]
rs7413345	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7415246	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7515965	0.91[EUR][1000 genomes]
rs7520754	0.93[EUR][1000 genomes]
rs7525320	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7533977	0.91[EUR][1000 genomes]
rs7554714	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94788600-94800800	Weak transcription	Pancreas	Pancrea
2	chr1:94790800-94799200	Enhancers	Fetal Heart	heart
3	chr1:94791200-94796600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:94791200-94798600	Weak transcription	Lung	lung
5	chr1:94791800-94796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:94792400-94800200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:94793000-94796200	Enhancers	HUVEC	blood vessel
8	chr1:94793000-94798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:94793200-94796200	Enhancers	Osteobl	bone
10	chr1:94793200-94796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:94793200-94798600	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:94793200-94800600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:94793400-94796200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:94793400-94796400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:94793400-94798600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:94793400-94798800	Weak transcription	Placenta	Placenta
17	chr1:94793800-94796200	Enhancers	NHDF-Ad	bronchial
18	chr1:94794800-94796200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:94794800-94796400	Enhancers	Left Ventricle	heart
20	chr1:94794800-94796600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:94794800-94796600	Enhancers	NHLF	lung
22	chr1:94795000-94798400	Weak transcription	HSMMtube	muscle
23	chr1:94795200-94796400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:94795200-94796600	Enhancers	HSMM	muscle
25	chr1:94795200-94798600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:94795400-94796600	Enhancers	Fetal Stomach	stomach
27	chr1:94795400-94796600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:94795600-94796400	Enhancers	GM12878-XiMat	blood
29	chr1:94795800-94796400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:94795800-94796600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:94796000-94796200	Enhancers	Brain Angular Gyrus	brain
32	chr1:94796000-94796200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr1:94796000-94796600	Enhancers	HepG2	liver
34	chr1:94796000-94798200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:94796000-94798200	Weak transcription	NH-A	brain
36	chr1:94796000-94798400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:94796000-94798400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:94796000-94798400	Weak transcription	Fetal Kidney	kidney
39	chr1:94796000-94798400	Weak transcription	A549	lung
40	chr1:94796000-94798400	Weak transcription	HMEC	breast
41	chr1:94796000-94798400	Weak transcription	NHEK	skin
42	chr1:94796000-94798800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:94796000-94798800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:94796000-94800000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:94796000-94800200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:94796000-94800400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:94796000-94800600	Weak transcription	Adipose Nuclei	Adipose
48	chr1:94796000-94800600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:94796000-94804600	Weak transcription	Fetal Thymus	thymus
50	chr1:94796000-94804800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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