Variant report

Variant	rs28854328
Chromosome Location	chr2:233920663-233920664
allele	A/G
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	GATA2	chr2:233920080-233920993	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr2:233920003-233920978	SH-SY5Y	brain:	n/a	n/a
3	GATA2	chr2:233920463-233920967	K562	blood:	n/a	n/a
4	GATA2	chr2:233920034-233920949	K562	blood:	n/a	n/a
5	GATA1	chr2:233919891-233921212	PBDE	blood:	n/a	n/a
6	CEBPD	chr2:233920106-233920932	K562	blood:	n/a	n/a
7	ZC3H11A	chr2:233920136-233920839	K562	blood:	n/a	n/a
8	GATA3	chr2:233920059-233921265	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr2:233920024-233920812	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233919381..233921351-chr2:233923407..233926039,2	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	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12994169	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28773607	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34218488	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35140857	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4973063	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7585583	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
2	chr2:233916600-233924000	Weak transcription	Esophagus	oesophagus
3	chr2:233916600-233924000	Weak transcription	Right Atrium	heart
4	chr2:233916600-233924600	Weak transcription	Pancreas	Pancrea
5	chr2:233917000-233925800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:233917400-233926000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:233919000-233923600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:233919000-233923800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:233919000-233923800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:233919000-233924000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:233919000-233924200	Weak transcription	Liver	Liver
12	chr2:233919000-233925200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:233919000-233925200	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:233919200-233923000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:233919200-233923000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:233919200-233923200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:233919200-233923400	Weak transcription	Spleen	Spleen
18	chr2:233919200-233923600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:233919200-233923800	Weak transcription	Primary B cells from cord blood	blood
20	chr2:233919200-233923800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:233919200-233923800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:233919200-233925200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:233919400-233921800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:233919400-233921800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:233919400-233922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:233919400-233923400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:233919400-233923600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:233919400-233923800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:233919400-233923800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:233919400-233923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:233919400-233923800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:233919400-233923800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:233919400-233924000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:233919400-233924000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:233919600-233922400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:233919600-233923800	Weak transcription	Adipose Nuclei	Adipose
37	chr2:233919800-233922000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:233919800-233924200	Weak transcription	Thymus	Thymus
39	chr2:233920000-233921800	Weak transcription	Placenta	Placenta
40	chr2:233920000-233923800	Weak transcription	Right Ventricle	heart
41	chr2:233920000-233924000	Weak transcription	Lung	lung
42	chr2:233920200-233922000	Weak transcription	Placenta Amnion	Placenta Amnion

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