Variant report

Variant	rs6759288
Chromosome Location	chr2:233926121-233926122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233925658..233927822-chr2:233939006..233941097,2	K562	blood:

Variant related genes	Relation type
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11888284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900969	1.00[ASN][1000 genomes]
rs11901748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
2	chr2:233922400-233926200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:233923000-233927800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:233924400-233926800	Enhancers	K562	blood
5	chr2:233924400-233927200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr2:233924400-233927200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:233924400-233928800	Active TSS	Brain Hippocampus Middle	brain
8	chr2:233924600-233926200	Active TSS	Left Ventricle	heart
9	chr2:233924600-233927000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:233924600-233927000	Active TSS	Stomach Smooth Muscle	stomach
11	chr2:233924600-233928000	Active TSS	Brain Anterior Caudate	brain
12	chr2:233924600-233929200	Active TSS	Rectal Smooth Muscle	rectum
13	chr2:233924800-233926400	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:233924800-233926400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr2:233924800-233926800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:233924800-233927000	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr2:233924800-233927000	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr2:233924800-233927200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:233924800-233927200	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:233924800-233927200	Active TSS	Small Intestine	intestine
21	chr2:233924800-233927400	Active TSS	Liver	Liver
22	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr2:233924800-233927400	Flanking Active TSS	HUVEC	blood vessel
25	chr2:233924800-233927600	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr2:233924800-233929800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr2:233925000-233926200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:233925000-233926200	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr2:233925000-233926200	Active TSS	Thymus	Thymus
30	chr2:233925000-233926200	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr2:233925000-233926400	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr2:233925000-233926400	Active TSS	Primary B cells from peripheral blood	blood
33	chr2:233925000-233926400	Flanking Active TSS	Fetal Stomach	stomach
34	chr2:233925000-233926400	Active TSS	Gastric	stomach
35	chr2:233925000-233926600	Active TSS	GM12878-XiMat	blood
36	chr2:233925000-233926800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr2:233925000-233926800	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr2:233925000-233927000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:233925000-233927400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr2:233925000-233927400	Active TSS	Esophagus	oesophagus
41	chr2:233925200-233926600	Active TSS	Brain Substantia Nigra	brain
42	chr2:233925200-233927000	Active TSS	Colon Smooth Muscle	Colon
43	chr2:233925200-233927200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:233925200-233927800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:233925200-233930000	Enhancers	Stomach Mucosa	stomach
46	chr2:233925400-233926400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr2:233925400-233926600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:233925400-233926600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr2:233925400-233926600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:233925400-233927200	Flanking Active TSS	Dnd41	blood

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