Variant report

Variant	rs4257390
Chromosome Location	chr2:233929510-233929511
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	chr2:233923368..233925539-chr2:233928371..233930307,2	K562	blood:

Variant related genes	Relation type
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3935584	0.96[CEU][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4073363	0.92[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4439944	1.00[CHB][hapmap];0.87[GIH][hapmap]
rs4973063	0.88[CEU][hapmap];0.81[TSI][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4257390	B3GNT7	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233924800-233929800	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr2:233925200-233930000	Enhancers	Stomach Mucosa	stomach
3	chr2:233925400-233930000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr2:233926200-233929800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:233926400-233929800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr2:233926600-233930000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:233926800-233929800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr2:233926800-233931000	Weak transcription	Pancreas	Pancrea
9	chr2:233926800-233931800	Weak transcription	K562	blood
10	chr2:233927400-233929800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:233927400-233930000	Enhancers	Adipose Nuclei	Adipose
12	chr2:233927400-233930000	Enhancers	Right Atrium	heart
13	chr2:233927400-233930000	Genic enhancers	Spleen	Spleen
14	chr2:233928000-233929800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr2:233928000-233931600	Weak transcription	HUVEC	blood vessel
16	chr2:233928200-233929800	Enhancers	Brain Anterior Caudate	brain
17	chr2:233928200-233929800	Genic enhancers	Fetal Thymus	thymus
18	chr2:233928200-233930000	Enhancers	Colonic Mucosa	Colon
19	chr2:233928200-233933400	Weak transcription	Right Ventricle	heart
20	chr2:233928400-233929800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:233928400-233931600	Weak transcription	Small Intestine	intestine
22	chr2:233928800-233929800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
23	chr2:233928800-233930000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:233928800-233931600	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:233928800-233932000	Weak transcription	Fetal Stomach	stomach
26	chr2:233928800-233932800	Weak transcription	Fetal Intestine Small	intestine
27	chr2:233928800-233933800	Genic enhancers	Primary B cells from cord blood	blood
28	chr2:233928800-233934200	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr2:233929000-233929600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:233929000-233930000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:233929000-233930000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:233929000-233930000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:233929000-233930000	Weak transcription	Psoas Muscle	Psoas
34	chr2:233929000-233930200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr2:233929000-233930800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:233929000-233932600	Weak transcription	Esophagus	oesophagus
37	chr2:233929000-233936000	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr2:233929000-233939800	Weak transcription	Left Ventricle	heart
39	chr2:233929000-233940200	Weak transcription	Gastric	stomach
40	chr2:233929200-233929800	Enhancers	Primary T cells from cord blood	blood
41	chr2:233929200-233930000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:233929200-233930000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:233929200-233930000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr2:233929200-233931200	Genic enhancers	HepG2	liver
45	chr2:233929200-233933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:233929200-233933600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:233929200-233940000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:233929400-233929600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:233929400-233929600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr2:233929400-233929800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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