Variant report

Variant	rs73440601
Chromosome Location	chr15:72649547-72649548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72637251..72641057-chr15:72647235..72650541,5	K562	blood:
2	chr15:72643627..72645538-chr15:72648082..72650902,2	K562	blood:
3	chr15:72649215..72653843-chr15:72765321..72768285,4	MCF-7	breast:
4	chr15:72648214..72651492-chr15:72765050..72767874,3	MCF-7	breast:
5	chr15:72633335..72635089-chr15:72648050..72650924,2	K562	blood:

Variant related genes	Relation type
ENSG00000261423	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10220917	1.00[EUR][1000 genomes]
rs16956759	1.00[EUR][1000 genomes]
rs1800430	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28471053	1.00[EUR][1000 genomes]
rs59427837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73440586	1.00[EUR][1000 genomes]
rs73440594	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73442510	1.00[EUR][1000 genomes]
rs8192390	1.00[EUR][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	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 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	chr15:72613200-72651000	Weak transcription	Stomach Mucosa	stomach
2	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
3	chr15:72613400-72667600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:72627800-72650400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:72629200-72649600	Strong transcription	Left Ventricle	heart
6	chr15:72630200-72656200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:72632400-72650000	Weak transcription	Right Atrium	heart
8	chr15:72632600-72649600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:72633000-72650400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr15:72633000-72651200	Strong transcription	Thymus	Thymus
11	chr15:72633000-72652000	Strong transcription	Fetal Stomach	stomach
12	chr15:72633400-72651600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:72633600-72650000	Strong transcription	Brain Cingulate Gyrus	brain
14	chr15:72633600-72650400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:72633800-72651200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr15:72634000-72649800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:72634000-72650000	Strong transcription	Liver	Liver
18	chr15:72634000-72650800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr15:72634400-72650400	Strong transcription	Aorta	Aorta
20	chr15:72634400-72650600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr15:72634600-72650600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:72634600-72667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:72634800-72649800	Strong transcription	Brain Germinal Matrix	brain
24	chr15:72635400-72651400	Strong transcription	Primary T cells from cord blood	blood
25	chr15:72635600-72650200	Strong transcription	Fetal Thymus	thymus
26	chr15:72635800-72649600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:72635800-72649800	Strong transcription	Brain Anterior Caudate	brain
28	chr15:72635800-72650000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:72635800-72650200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr15:72635800-72650600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:72636000-72649600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:72636000-72651200	Strong transcription	GM12878-XiMat	blood
33	chr15:72636000-72651600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:72636400-72650000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:72636400-72652000	Strong transcription	Primary B cells from cord blood	blood
36	chr15:72636800-72649600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:72636800-72650400	Strong transcription	HepG2	liver
38	chr15:72639400-72649800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:72639400-72652600	Strong transcription	Fetal Intestine Small	intestine
40	chr15:72639600-72650200	Strong transcription	Fetal Intestine Large	intestine
41	chr15:72640600-72667200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:72641800-72664800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr15:72642000-72667000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr15:72644000-72660400	Weak transcription	Fetal Brain Male	brain
45	chr15:72645000-72649600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:72645200-72651200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr15:72645600-72651200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:72645800-72650400	Weak transcription	HMEC	breast
49	chr15:72646400-72650400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:72647200-72650800	Weak transcription	NH-A	brain

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