Variant report

Variant	rs7585583
Chromosome Location	chr2:233924081-233924082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr2:233924021-233924815	HepG2	liver:	n/a	n/a
2	ELF1	chr2:233923748-233927004	GM12878	blood:	n/a	chr2:233925035-233925046 chr2:233924984-233924997 chr2:233925034-233925047
3	MTA3	chr2:233924053-233929173	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:233924075-233929983	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233922580..233924412-chr2:233924753..233926303,2	K562	blood:

Variant related genes	Relation type
INPP5D	TF binding region
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1141328	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28773607	0.83[AMR][1000 genomes]
rs28854328	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34218488	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4973063	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
2	chr2:233916600-233924600	Weak transcription	Pancreas	Pancrea
3	chr2:233917000-233925800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:233917400-233926000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:233919000-233924200	Weak transcription	Liver	Liver
6	chr2:233919000-233925200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:233919000-233925200	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:233919200-233925200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:233919800-233924200	Weak transcription	Thymus	Thymus
10	chr2:233921600-233924400	Weak transcription	Small Intestine	intestine
11	chr2:233922400-233924200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:233922400-233924400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:233922400-233926200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:233923000-233924400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:233923000-233927800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:233923200-233924400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:233923400-233924200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:233923400-233924400	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:233923400-233924400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:233923400-233924800	Weak transcription	Gastric	stomach
21	chr2:233923400-233925000	Enhancers	Spleen	Spleen
22	chr2:233923600-233924200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:233923600-233924200	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:233923600-233924200	Enhancers	GM12878-XiMat	blood
25	chr2:233923600-233924400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:233923600-233924400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:233923600-233924600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:233923800-233924200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:233923800-233924200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:233923800-233924200	Enhancers	Dnd41	blood
31	chr2:233923800-233924400	Enhancers	Primary B cells from cord blood	blood
32	chr2:233923800-233924400	Enhancers	Primary T cells from cord blood	blood
33	chr2:233923800-233924400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:233923800-233924400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:233923800-233924400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:233923800-233924400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:233923800-233924400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr2:233923800-233924400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:233923800-233924400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:233923800-233924600	Enhancers	Adipose Nuclei	Adipose
41	chr2:233923800-233924600	Flanking Active TSS	HepG2	liver
42	chr2:233923800-233924800	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:233923800-233924800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr2:233923800-233924800	Enhancers	Right Ventricle	heart
45	chr2:233924000-233924200	Enhancers	Right Atrium	heart
46	chr2:233924000-233924400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:233924000-233924400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:233924000-233924400	Enhancers	Brain Hippocampus Middle	brain
49	chr2:233924000-233924400	Enhancers	Colonic Mucosa	Colon
50	chr2:233924000-233924600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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