Variant report

Variant	rs74126650
Chromosome Location	chr1:160921605-160921606
allele	C/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	RAD21	chr1:160921010-160921605	H1-hESC	embryonic stem cell:	n/a	chr1:160921343-160921357
2	RAD21	chr1:160921074-160921639	HCT-116	colon:	n/a	chr1:160921343-160921357
3	SMC3	chr1:160921112-160921669	SK-N-SH	brain:	n/a	chr1:160921343-160921357
4	CTCF	chr1:160921600-160921750	GM12866	blood:	n/a	n/a
5	WRNIP1	chr1:160921203-160921672	GM12878	blood:	n/a	n/a
6	CTCF	chr1:160921600-160921750	GM12864	blood:	n/a	n/a
7	GATA2	chr1:160921124-160921744	HUVEC	blood vessel:	n/a	n/a
8	RAD21	chr1:160921010-160921652	MCF-7	breast:	n/a	chr1:160921343-160921357
9	CTCF	chr1:160921170-160921644	K562	blood:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
10	RAD21	chr1:160921122-160921620	ECC-1	luminal epithelium:	n/a	chr1:160921343-160921357
11	GATA3	chr1:160921109-160921750	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:160921115-160921650	HCT-116	colon:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
13	RAD21	chr1:160921094-160921646	A549	lung:	n/a	chr1:160921343-160921357
14	RAD21	chr1:160921096-160921711	A549	lung:	n/a	chr1:160921343-160921357
15	CTCF	chr1:160920995-160921832	A549	lung:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
16	CTCF	chr1:160920932-160921706	SK-N-SH	brain:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
17	CTCF	chr1:160921029-160921691	HCT-116	colon:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
18	GATA3	chr1:160921128-160921652	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr1:160921139-160921669	SK-N-SH	brain:	n/a	chr1:160921343-160921357
20	RAD21	chr1:160921025-160921687	HCT-116	colon:	n/a	chr1:160921343-160921357

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160651384..160651939-chr1:160921268..160921800,2	K562	blood:

Variant related genes	Relation type
ITLN2	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56187725	1.00[AMR][1000 genomes]
rs59397787	1.00[AMR][1000 genomes]
rs61469377	1.00[AMR][1000 genomes]
rs74126638	1.00[AMR][1000 genomes]
rs74126641	1.00[AMR][1000 genomes]
rs790060	1.00[AMR][1000 genomes]
rs790061	1.00[AMR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking 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	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160916600-160921800	Enhancers	Fetal Intestine Large	intestine
2	chr1:160916800-160923800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:160917600-160921800	Enhancers	A549	lung
4	chr1:160918000-160923800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:160918200-160923800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:160919000-160924000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:160919000-160924400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:160919400-160921800	Enhancers	Fetal Intestine Small	intestine
9	chr1:160919400-160923000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:160919600-160924200	Enhancers	HMEC	breast
11	chr1:160919800-160921800	Enhancers	Ovary	ovary
12	chr1:160919800-160921800	Enhancers	Right Atrium	heart
13	chr1:160919800-160923200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:160919800-160924000	Weak transcription	Fetal Heart	heart
15	chr1:160920000-160923600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:160920200-160924200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:160920600-160922800	Weak transcription	Right Ventricle	heart
18	chr1:160920800-160921800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:160920800-160921800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:160920800-160921800	Enhancers	Esophagus	oesophagus
21	chr1:160920800-160921800	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:160921000-160922400	Enhancers	Fetal Thymus	thymus
23	chr1:160921400-160922000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:160921400-160922600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:160921400-160923000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:160921400-160923800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:160921600-160921800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:160921600-160922200	Enhancers	Brain Hippocampus Middle	brain
29	chr1:160921600-160922200	Enhancers	HSMMtube	muscle
30	chr1:160921600-160922400	Flanking Active TSS	NHEK	skin
31	chr1:160921600-160922800	Weak transcription	Pancreas	Pancrea
32	chr1:160921600-160923800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:160921600-160923800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:160921600-160923800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:160921600-160923800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:160921600-160923800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:160921600-160923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:160921600-160923800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:160921600-160924000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:160921600-160924000	Weak transcription	Lung	lung
41	chr1:160921600-160926600	Weak transcription	H9 Cell Line	embryonic stem cell

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