Variant report

Variant	rs73094987
Chromosome Location	chr2:233946884-233946885
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	chr2:233939365..233942307-chr2:233943913..233949317,5	K562	blood:
2	chr2:233938376..233942307-chr2:233943562..233948106,4	K562	blood:

Variant related genes	Relation type
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11901943	1.00[EUR][1000 genomes]
rs28631381	1.00[AMR][1000 genomes]
rs57218566	1.00[EUR][1000 genomes]
rs58480585	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61351720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6437087	1.00[EUR][1000 genomes]
rs6708294	1.00[EUR][1000 genomes]
rs6712466	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094946	1.00[EUR][1000 genomes]
rs73094949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094978	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094980	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73101521	1.00[EUR][1000 genomes]
rs73101525	1.00[EUR][1000 genomes]
rs73102744	1.00[AMR][1000 genomes]
rs73107107	1.00[AMR][1000 genomes]
rs73107126	1.00[EUR][1000 genomes]
rs9917365	1.00[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233940600-233948000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233941000-233947600	Weak transcription	Right Atrium	heart
3	chr2:233941000-233947800	Weak transcription	Esophagus	oesophagus
4	chr2:233941200-233947600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:233941200-233948000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:233941800-233947800	Weak transcription	HSMM	muscle
7	chr2:233942000-233947400	Weak transcription	HUVEC	blood vessel
8	chr2:233942600-233947000	Genic enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:233942600-233947000	Genic enhancers	Spleen	Spleen
10	chr2:233942600-233948200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:233942600-233948800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:233943000-233951400	Genic enhancers	Fetal Thymus	thymus
13	chr2:233943800-233950800	Enhancers	Placenta	Placenta
14	chr2:233944200-233947000	Genic enhancers	Dnd41	blood
15	chr2:233944400-233947600	Weak transcription	Left Ventricle	heart
16	chr2:233944400-233947800	Weak transcription	Right Ventricle	heart
17	chr2:233944600-233947000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:233944600-233947200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:233944600-233948000	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr2:233944600-233948800	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr2:233944800-233948000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:233945000-233947200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
23	chr2:233945000-233948400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr2:233945000-233949600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr2:233945000-233949800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr2:233945400-233947200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
27	chr2:233945400-233949000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:233945400-233950000	Enhancers	Colonic Mucosa	Colon
29	chr2:233945400-233950200	Enhancers	Fetal Muscle Trunk	muscle
30	chr2:233945600-233947600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:233945600-233948000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:233945600-233948600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr2:233945800-233947200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:233945800-233947600	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:233945800-233947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:233945800-233952600	Enhancers	Adipose Nuclei	Adipose
37	chr2:233946000-233947200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:233946400-233947200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:233946400-233947600	Enhancers	Primary hematopoietic stem cells	blood
40	chr2:233946400-233948400	Enhancers	Thymus	Thymus
41	chr2:233946600-233947000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:233946600-233947000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:233946600-233947000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
44	chr2:233946600-233947600	Weak transcription	Liver	Liver
45	chr2:233946800-233947000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:233946800-233947000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:233946800-233947200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:233946800-233947200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
49	chr2:233946800-233947200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:233946800-233947400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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