Variant report

Variant	rs6759511
Chromosome Location	chr2:233926274-233926275
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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10211511	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694923	0.88[EUR][1000 genomes]
rs13017176	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017623	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391656	0.82[ASN][1000 genomes]
rs13392069	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401226	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13408428	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13408980	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2344913	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28574597	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177313	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34383725	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513284	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779565	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35213087	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237010	0.82[ASN][1000 genomes]
rs35487055	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073603	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405750	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439944	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56279626	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194574	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917223	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917354	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917366	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917368	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	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
3	nsv520361	chr2:233926201-233929545	Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
2	chr2:233923000-233927800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:233924400-233926800	Enhancers	K562	blood
4	chr2:233924400-233927200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:233924400-233927200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:233924400-233928800	Active TSS	Brain Hippocampus Middle	brain
7	chr2:233924600-233927000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:233924600-233927000	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:233924600-233928000	Active TSS	Brain Anterior Caudate	brain
10	chr2:233924600-233929200	Active TSS	Rectal Smooth Muscle	rectum
11	chr2:233924800-233926400	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr2:233924800-233926400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr2:233924800-233926800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:233924800-233927000	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr2:233924800-233927000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr2:233924800-233927200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:233924800-233927200	Active TSS	Brain Cingulate Gyrus	brain
18	chr2:233924800-233927200	Active TSS	Small Intestine	intestine
19	chr2:233924800-233927400	Active TSS	Liver	Liver
20	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr2:233924800-233927400	Flanking Active TSS	HUVEC	blood vessel
23	chr2:233924800-233927600	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr2:233924800-233929800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr2:233925000-233926400	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr2:233925000-233926400	Active TSS	Primary B cells from peripheral blood	blood
27	chr2:233925000-233926400	Flanking Active TSS	Fetal Stomach	stomach
28	chr2:233925000-233926400	Active TSS	Gastric	stomach
29	chr2:233925000-233926600	Active TSS	GM12878-XiMat	blood
30	chr2:233925000-233926800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr2:233925000-233926800	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr2:233925000-233927000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:233925000-233927400	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:233925000-233927400	Active TSS	Esophagus	oesophagus
35	chr2:233925200-233926600	Active TSS	Brain Substantia Nigra	brain
36	chr2:233925200-233927000	Active TSS	Colon Smooth Muscle	Colon
37	chr2:233925200-233927200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:233925200-233927800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:233925200-233930000	Enhancers	Stomach Mucosa	stomach
40	chr2:233925400-233926400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr2:233925400-233926600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:233925400-233926600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr2:233925400-233926600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:233925400-233927200	Flanking Active TSS	Dnd41	blood
45	chr2:233925400-233928400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:233925400-233930000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr2:233925600-233926600	Weak transcription	Pancreas	Pancrea
48	chr2:233925600-233926800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:233925600-233927000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr2:233925600-233927400	Flanking Active TSS	Adipose Nuclei	Adipose

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