Variant report

Variant	rs13414797
Chromosome Location	chr2:54201708-54201709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54074773..54076424-chr2:54200661..54203380,2	MCF-7	breast:
2	chr2:54196505..54198670-chr2:54201640..54204487,2	K562	blood:
3	chr2:54201384..54203059-chr2:55863159..55864990,2	K562	blood:
4	chr2:54198790..54200475-chr2:54201295..54203717,2	K562	blood:
5	chr2:54200308..54201995-chr2:54341624..54344504,2	K562	blood:

Variant related genes	Relation type
ENSG00000265452	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10084204	0.84[AFR][1000 genomes]
rs10165401	1.00[AMR][1000 genomes]
rs10195124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10208758	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388005	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388199	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401150	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401851	0.84[AFR][1000 genomes]
rs13409049	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412439	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418576	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13421534	1.00[AMR][1000 genomes]
rs13422211	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1544736	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28760371	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54198600-54209000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:54198600-54212000	Weak transcription	Spleen	Spleen
3	chr2:54198800-54202600	Weak transcription	Lung	lung
4	chr2:54198800-54204200	Weak transcription	Esophagus	oesophagus
5	chr2:54198800-54205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:54199000-54203200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:54199000-54203400	Weak transcription	Left Ventricle	heart
8	chr2:54199000-54203400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:54199000-54204200	Weak transcription	Thymus	Thymus
10	chr2:54199000-54207200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:54199000-54208600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:54199000-54214200	Weak transcription	Stomach Mucosa	stomach
13	chr2:54199000-54214400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:54199000-54215600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:54199000-54221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:54199000-54228800	Weak transcription	Aorta	Aorta
17	chr2:54199200-54201800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:54199200-54201800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:54199200-54202000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:54199200-54202000	Weak transcription	NHLF	lung
21	chr2:54199200-54202200	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:54199200-54202200	Weak transcription	Fetal Intestine Small	intestine
23	chr2:54199200-54202800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:54199200-54204200	Weak transcription	Pancreas	Pancrea
25	chr2:54199200-54204400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:54199200-54204400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:54199200-54205600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:54199200-54206000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:54199200-54206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:54199200-54207000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:54199200-54207000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:54199200-54207000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:54199200-54207000	Weak transcription	Fetal Brain Male	brain
34	chr2:54199200-54207200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:54199200-54207400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:54199200-54207600	Weak transcription	Brain Germinal Matrix	brain
37	chr2:54199200-54207600	Weak transcription	Fetal Brain Female	brain
38	chr2:54199200-54207800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:54199200-54208000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:54199200-54209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:54199200-54210600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:54199200-54213800	Weak transcription	Psoas Muscle	Psoas
43	chr2:54199200-54213800	Weak transcription	Small Intestine	intestine
44	chr2:54199200-54214200	Weak transcription	Colonic Mucosa	Colon
45	chr2:54199200-54214200	Weak transcription	Fetal Heart	heart
46	chr2:54199200-54214200	Weak transcription	Fetal Kidney	kidney
47	chr2:54199200-54214200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:54199200-54214200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:54199200-54214200	Weak transcription	NH-A	brain
50	chr2:54199200-54214400	Weak transcription	A549	lung

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