Variant report

Variant	rs61782717
Chromosome Location	chr1:70879505-70879506
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70876526..70879847-chr1:71510519..71513789,3	K562	blood:
2	chr1:70878824..70881393-chr1:70902317..70904279,2	MCF-7	breast:
3	chr1:70877825..70880614-chr1:70884736..70887414,2	K562	blood:

Variant related genes	Relation type
ENSG00000050628	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12566820	1.00[AFR][1000 genomes]
rs3806385	1.00[AFR][1000 genomes]
rs55687135	1.00[AFR][1000 genomes]
rs61785279	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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70875800-70879800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:70875800-70880000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:70876200-70879600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:70876400-70880200	Active TSS	Liver	Liver
5	chr1:70877400-70898600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:70877400-70900600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:70877400-70900600	Weak transcription	Lung	lung
8	chr1:70877400-70901800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:70877400-70903400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:70877400-70906400	Weak transcription	Small Intestine	intestine
11	chr1:70877400-70906600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:70877600-70891000	Weak transcription	Left Ventricle	heart
13	chr1:70877600-70892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:70877800-70882000	Weak transcription	Fetal Stomach	stomach
15	chr1:70877800-70907800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:70878000-70899000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:70878000-70903400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:70878000-70908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:70878200-70882400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:70878200-70882600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:70878200-70885000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:70878200-70891000	Weak transcription	Aorta	Aorta
23	chr1:70878200-70899200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:70878200-70907000	Weak transcription	Psoas Muscle	Psoas
25	chr1:70878200-70909600	Weak transcription	Gastric	stomach
26	chr1:70878400-70879800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:70878400-70879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:70878400-70879800	Weak transcription	Pancreas	Pancrea
29	chr1:70878400-70883600	Weak transcription	Fetal Intestine Large	intestine
30	chr1:70878400-70885600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:70878400-70891000	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:70878400-70895400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:70878400-70896600	Weak transcription	Adipose Nuclei	Adipose
34	chr1:70878400-70897600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:70878400-70897600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:70878400-70897800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:70878400-70899200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:70878400-70901800	Weak transcription	Colonic Mucosa	Colon
39	chr1:70878400-70907000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:70878600-70879600	Weak transcription	Fetal Brain Male	brain
41	chr1:70878600-70882000	Weak transcription	Fetal Intestine Small	intestine
42	chr1:70878600-70883400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:70878600-70883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:70878600-70883800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:70878600-70884000	Weak transcription	Osteobl	bone
46	chr1:70878600-70891000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:70878600-70891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:70878600-70892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:70878600-70894600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:70878600-70896600	Weak transcription	Fetal Lung	lung

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