Variant report

Variant	rs73100509
Chromosome Location	chr1:226185514-226185515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225964273..225967291-chr1:226184778..226188048,4	K562	blood:
2	chr1:226185497..226187877-chr1:226269946..226272750,2	MCF-7	breast:
3	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
4	chr1:226184976..226187995-chr1:226271007..226274594,3	K562	blood:
5	chr1:226183543..226186620-chr1:226307621..226310458,4	MCF-7	breast:
6	chr1:226116139..226117660-chr1:226183554..226185717,2	K562	blood:
7	chr1:226067837..226071624-chr1:226184531..226189088,6	K562	blood:
8	chr1:226177708..226179904-chr1:226184290..226186847,2	MCF-7	breast:
9	chr1:226185027..226186849-chr1:226285151..226286763,2	K562	blood:
10	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
11	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
12	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:
13	chr1:226185010..226187014-chr1:226297708..226299358,2	MCF-7	breast:
14	chr1:225965401..225967311-chr1:226185341..226187298,3	MCF-7	breast:
15	chr1:226128249..226131206-chr1:226183355..226186059,2	K562	blood:
16	chr1:226108702..226117785-chr1:226183554..226190529,14	K562	blood:
17	chr1:225724327..225726333-chr1:226183688..226185527,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction
ENSG00000143768	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000196187	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16845569	0.88[AFR][1000 genomes]
rs16845579	0.88[AFR][1000 genomes]
rs6694854	1.00[AMR][1000 genomes]
rs73083508	0.85[AFR][1000 genomes]
rs73100530	0.92[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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226165000-226186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:226170000-226185800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:226170200-226186200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:226171600-226185800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:226180200-226185600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:226180200-226186200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:226180400-226185600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226180400-226186000	Weak transcription	Ovary	ovary
10	chr1:226180600-226185800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:226180800-226185600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:226180800-226185600	Weak transcription	Brain Germinal Matrix	brain
13	chr1:226180800-226185600	Weak transcription	Right Ventricle	heart
14	chr1:226180800-226186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:226181800-226186000	Weak transcription	Aorta	Aorta
16	chr1:226181800-226186200	Weak transcription	Gastric	stomach
17	chr1:226182200-226185600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:226182800-226185600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:226182800-226185800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:226182800-226186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:226183000-226185600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:226183000-226185600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:226183000-226185600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:226183000-226185800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:226183000-226185800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:226183000-226186000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:226183000-226186200	Weak transcription	Left Ventricle	heart
28	chr1:226183200-226185600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:226183200-226185600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:226183200-226185600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:226183200-226185800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:226183200-226185800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:226183200-226185800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:226183200-226185800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr1:226183400-226185600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:226183400-226185600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:226183600-226185600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:226183600-226185600	Enhancers	Hela-S3	cervix
39	chr1:226183600-226185800	Enhancers	Fetal Brain Female	brain
40	chr1:226183600-226185800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:226183600-226186600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:226183800-226185600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:226183800-226185800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:226183800-226186800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:226184000-226185600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:226184200-226185600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:226184200-226185600	Enhancers	HMEC	breast
48	chr1:226184200-226185600	Genic enhancers	NHEK	skin
49	chr1:226184200-226185800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:226184200-226186000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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