Variant report

Variant	rs73127514
Chromosome Location	chr1:224617606-224617607
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224607859..224609701-chr1:224614855..224617759,2	MCF-7	breast:
2	chr1:224617091..224617963-chr19:47729258..47729978,2	NB4	blood:
3	chr1:224615588..224618282-chr1:224620830..224623726,7	MCF-7	breast:
4	chr1:224615619..224618582-chr1:224673125..224674786,2	K562	blood:
5	chr1:224543781..224546462-chr1:224616960..224621011,5	K562	blood:
6	chr1:224559312..224561005-chr1:224615588..224617716,2	K562	blood:
7	chr1:224544617..224546435-chr1:224615748..224617645,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143771	Chromatin interaction
ENSG00000143786	Chromatin interaction
ENSG00000162923	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73118061	1.00[AFR][1000 genomes]
rs73118062	1.00[AFR][1000 genomes]
rs73118079	1.00[AFR][1000 genomes]
rs73121816	1.00[AFR][1000 genomes]
rs73123796	0.86[AFR][1000 genomes]
rs73127517	1.00[AFR][1000 genomes]
rs7522109	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:224572000-224617800	Strong transcription	Fetal Thymus	thymus
3	chr1:224572600-224618400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:224573200-224618400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:224573200-224618400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:224573600-224618200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:224595400-224618000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:224599800-224618000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:224605200-224618400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:224608400-224620800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:224609600-224618400	Weak transcription	Right Atrium	heart
12	chr1:224612000-224618400	Weak transcription	Fetal Heart	heart
13	chr1:224612000-224619400	Weak transcription	Stomach Mucosa	stomach
14	chr1:224612200-224619200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:224612400-224618200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:224612400-224618400	Weak transcription	Aorta	Aorta
17	chr1:224612400-224618400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:224612400-224618400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:224612400-224618400	Weak transcription	Fetal Brain Male	brain
20	chr1:224612400-224619200	Weak transcription	Right Ventricle	heart
21	chr1:224612400-224620000	Weak transcription	Ovary	ovary
22	chr1:224612400-224620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:224612400-224620400	Weak transcription	Esophagus	oesophagus
24	chr1:224612400-224620400	Weak transcription	Pancreas	Pancrea
25	chr1:224612400-224620600	Weak transcription	Spleen	Spleen
26	chr1:224613000-224618000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:224613000-224618400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:224613000-224618400	Weak transcription	Colonic Mucosa	Colon
29	chr1:224613000-224618600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:224613000-224620400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:224613000-224620400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:224613200-224618200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:224613200-224618400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:224613200-224618600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:224613800-224618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:224613800-224618600	Weak transcription	Fetal Brain Female	brain
37	chr1:224614000-224618400	Weak transcription	HepG2	liver
38	chr1:224615400-224618400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:224615600-224617800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:224615600-224617800	Weak transcription	NHEK	skin
41	chr1:224615600-224618000	Weak transcription	Brain Substantia Nigra	brain
42	chr1:224615600-224618000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:224615600-224618400	Enhancers	A549	lung
44	chr1:224616000-224618200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:224616000-224618400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:224616000-224618400	Weak transcription	Small Intestine	intestine
47	chr1:224616000-224618400	Weak transcription	HSMM	muscle
48	chr1:224616000-224618600	Weak transcription	Brain Angular Gyrus	brain
49	chr1:224616400-224618200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:224616600-224617800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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