Variant report

Variant	rs61825837
Chromosome Location	chr1:224701214-224701215
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:224701145-224702120	HCT-116	colon:	n/a	n/a
2	CTCF	chr1:224701120-224701270	HRE	kidney:	n/a	n/a
3	CTCF	chr1:224701120-224701270	HEEpiC	esophagus:	n/a	n/a
4	CTCF	chr1:224701200-224701350	GM12865	blood:	n/a	n/a
5	CTCF	chr1:224701170-224702235	A549	lung:	n/a	n/a
6	CTCF	chr1:224701180-224701330	GM12878	blood:	n/a	n/a
7	SMC3	chr1:224701160-224702163	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr1:224701211-224701344	GM19238	blood:	n/a	n/a
9	CTCF	chr1:224701185-224702176	HCT-116	colon:	n/a	n/a
10	CTCF	chr1:224701105-224702180	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr1:224701200-224702091	HCT-116	colon:	n/a	n/a
12	RAD21	chr1:224701171-224702029	HCT-116	colon:	n/a	n/a
13	CTCF	chr1:224701206-224701334	GM12892	blood:	n/a	n/a
14	CTCF	chr1:224701204-224701342	GM19239	blood:	n/a	n/a
15	RAD21	chr1:224701079-224702250	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr1:224701205-224701788	Spleen_OC	spleen:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224701109..224701953-chr1:231124167..231124902,2	K562	blood:
2	chr1:224700475..224701243-chr1:225038899..225039835,3	MCF-7	breast:

No data

Variant related genes	Relation type
CNIH3	TF binding region
ENSG00000252131	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16849647	1.00[AFR][1000 genomes]
rs61825794	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61827074	1.00[AFR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224690000-224702000	Enhancers	Liver	Liver
2	chr1:224692000-224701600	Weak transcription	Fetal Lung	lung
3	chr1:224692400-224701600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:224694200-224704000	Weak transcription	Right Atrium	heart
5	chr1:224694200-224717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
7	chr1:224696400-224716600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:224697200-224702200	Enhancers	Dnd41	blood
9	chr1:224698600-224701400	Weak transcription	Ovary	ovary
10	chr1:224698600-224701400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:224698800-224701400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:224699000-224701400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:224699000-224701600	Weak transcription	NHDF-Ad	bronchial
14	chr1:224699200-224701400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:224699200-224701400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:224699200-224701400	Weak transcription	K562	blood
17	chr1:224699200-224701600	Weak transcription	NH-A	brain
18	chr1:224699200-224701600	Weak transcription	NHEK	skin
19	chr1:224699200-224704200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:224699200-224704600	Weak transcription	HSMM	muscle
21	chr1:224699400-224701600	Weak transcription	HMEC	breast
22	chr1:224699400-224701600	Weak transcription	NHLF	lung
23	chr1:224700600-224701600	Enhancers	Fetal Intestine Small	intestine
24	chr1:224700600-224701800	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:224701000-224701400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:224701200-224701600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:224701200-224701600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:224701200-224701600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:224701200-224701600	Enhancers	Adipose Nuclei	Adipose
30	chr1:224701200-224701600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:224701200-224701600	Enhancers	Fetal Intestine Large	intestine
32	chr1:224701200-224701600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr1:224701200-224701600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:224701200-224701800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:224701200-224701800	Enhancers	Brain Germinal Matrix	brain
36	chr1:224701200-224701800	Enhancers	Stomach Mucosa	stomach
37	chr1:224701200-224702000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:224701200-224702000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:224701200-224702000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:224701200-224702000	Enhancers	Fetal Brain Male	brain
41	chr1:224701200-224702000	Enhancers	Fetal Kidney	kidney
42	chr1:224701200-224703200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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