Variant report

Variant	rs269281
Chromosome Location	chr1:70680816-70680817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70679382..70681987-chr1:70682758..70684789,3	K562	blood:
2	chr1:70674179..70677274-chr1:70677921..70681026,3	K562	blood:
3	chr1:70679935..70684301-chr1:70685237..70690690,9	K562	blood:
4	chr1:70677689..70679328-chr1:70679670..70681328,2	K562	blood:
5	chr1:70680332..70681916-chr1:70685597..70687772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction
ENSG00000228988	Chromatin interaction

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

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

rs_ID	r²[population]
rs269269	0.86[AFR][1000 genomes]
rs269270	0.86[AFR][1000 genomes]
rs269279	0.86[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	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70672000-70686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:70672000-70687000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70672400-70681200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:70672400-70686800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:70672600-70686400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:70672600-70686600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:70672800-70686600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:70673000-70681800	Weak transcription	Fetal Kidney	kidney
9	chr1:70673000-70683400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:70673200-70686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:70673200-70686200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:70673200-70686400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:70673200-70686400	Weak transcription	HSMMtube	muscle
14	chr1:70673200-70686600	Weak transcription	NH-A	brain
15	chr1:70673400-70686200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:70673400-70686200	Weak transcription	HMEC	breast
17	chr1:70673400-70686400	Weak transcription	Fetal Brain Male	brain
18	chr1:70673400-70686600	Weak transcription	A549	lung
19	chr1:70673600-70686400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:70673800-70681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:70673800-70686000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:70673800-70686600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:70673800-70687200	Weak transcription	Small Intestine	intestine
24	chr1:70674200-70681000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:70674200-70681400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:70674200-70685800	Weak transcription	Right Ventricle	heart
27	chr1:70674200-70686600	Weak transcription	Brain Angular Gyrus	brain
28	chr1:70674200-70686600	Weak transcription	Brain Anterior Caudate	brain
29	chr1:70674200-70686800	Weak transcription	Aorta	Aorta
30	chr1:70674400-70681000	Weak transcription	Fetal Brain Female	brain
31	chr1:70674400-70681000	Weak transcription	Fetal Lung	lung
32	chr1:70674400-70681000	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:70674400-70681200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:70674400-70686200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:70674400-70686400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:70674400-70686600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:70674400-70686600	Weak transcription	Colonic Mucosa	Colon
38	chr1:70674400-70686600	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:70674600-70686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:70674600-70686600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:70674800-70681400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:70675000-70682600	Weak transcription	HSMM	muscle
43	chr1:70675000-70685600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:70675000-70686200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:70675400-70685800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:70675400-70686400	Weak transcription	Osteobl	bone
47	chr1:70676000-70686400	Weak transcription	Brain Germinal Matrix	brain
48	chr1:70676200-70681200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:70676200-70681200	Weak transcription	HepG2	liver
50	chr1:70676200-70681400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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