Variant report

Variant	rs61972758
Chromosome Location	chr13:95923513-95923514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95860458..95862000-chr13:95922105..95923828,2	K562	blood:
2	chr13:95922109..95924473-chr13:95936856..95939759,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16952754	0.94[EUR][1000 genomes]
rs17189540	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17268275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17268282	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4148456	0.94[EUR][1000 genomes]
rs4148459	0.90[EUR][1000 genomes]
rs4148466	0.88[EUR][1000 genomes]
rs61965939	0.88[EUR][1000 genomes]
rs61965965	0.84[EUR][1000 genomes]
rs61972720	0.90[EUR][1000 genomes]
rs61972725	0.94[EUR][1000 genomes]
rs61972742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61972743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61972757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61972759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61974960	0.81[AMR][1000 genomes]
rs74105487	0.84[EUR][1000 genomes]
rs873705	0.84[EUR][1000 genomes]
rs9302049	0.84[EUR][1000 genomes]
rs9590204	0.88[EUR][1000 genomes]
rs9590205	0.88[EUR][1000 genomes]
rs9590230	0.84[AMR][1000 genomes];0.90[EUR][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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr13:95908000-95926600	Weak transcription	Gastric	stomach
3	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:95919000-95925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:95919000-95930000	Weak transcription	Esophagus	oesophagus
8	chr13:95919400-95923600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:95919400-95924200	Enhancers	Fetal Stomach	stomach
10	chr13:95919600-95924800	Enhancers	HUVEC	blood vessel
11	chr13:95919800-95923600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:95919800-95924600	Enhancers	Rectal Smooth Muscle	rectum
13	chr13:95919800-95928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:95920000-95923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:95920000-95923600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr13:95920200-95923600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:95920200-95928800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
19	chr13:95920400-95923600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:95920400-95924400	Enhancers	NH-A	brain
21	chr13:95920400-95927400	Weak transcription	Hela-S3	cervix
22	chr13:95920600-95928200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:95920800-95925600	Weak transcription	Placenta	Placenta
24	chr13:95921000-95923600	Enhancers	Stomach Smooth Muscle	stomach
25	chr13:95921200-95925600	Weak transcription	Lung	lung
26	chr13:95921400-95926200	Weak transcription	Right Atrium	heart
27	chr13:95921600-95923600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:95921600-95923600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:95921600-95924800	Enhancers	NHLF	lung
30	chr13:95921600-95927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:95922000-95924400	Enhancers	Fetal Lung	lung
32	chr13:95922200-95926200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr13:95922400-95923600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:95922400-95926200	Weak transcription	Small Intestine	intestine
35	chr13:95922400-95927600	Weak transcription	Brain Anterior Caudate	brain
36	chr13:95922400-95927800	Weak transcription	NHEK	skin
37	chr13:95922600-95923600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:95922600-95923800	Enhancers	Pancreas	Pancrea
39	chr13:95922600-95924400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:95922800-95923600	Enhancers	Colon Smooth Muscle	Colon
41	chr13:95922800-95923600	Enhancers	Fetal Muscle Trunk	muscle
42	chr13:95922800-95923800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr13:95922800-95924000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:95922800-95924400	Enhancers	Fetal Intestine Large	intestine
45	chr13:95922800-95924400	Enhancers	Stomach Mucosa	stomach
46	chr13:95922800-95924600	Enhancers	Fetal Muscle Leg	muscle
47	chr13:95922800-95924800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr13:95922800-95926400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:95922800-95928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:95923000-95923800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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