Variant report

Variant	rs73930394
Chromosome Location	chr2:39241174-39241175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39233533..39235102-chr2:39239686..39241815,2	K562	blood:
2	chr2:39237020..39239213-chr2:39240112..39243107,2	K562	blood:

Variant related genes	Relation type
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11888905	1.00[AMR][1000 genomes]
rs11894209	1.00[AMR][1000 genomes]
rs11896463	1.00[AMR][1000 genomes]
rs55809581	1.00[AMR][1000 genomes]
rs56065106	1.00[AMR][1000 genomes]
rs56149931	1.00[AMR][1000 genomes]
rs56407729	1.00[AMR][1000 genomes]
rs58080550	1.00[AMR][1000 genomes]
rs59364009	1.00[AMR][1000 genomes]
rs59983786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61139307	1.00[AMR][1000 genomes]
rs6708518	1.00[AMR][1000 genomes]
rs6724203	1.00[AMR][1000 genomes]
rs6756998	1.00[AMR][1000 genomes]
rs73930365	1.00[AMR][1000 genomes]
rs73930366	1.00[AMR][1000 genomes]
rs73930371	1.00[AMR][1000 genomes]
rs73930376	1.00[AMR][1000 genomes]
rs73930385	1.00[AMR][1000 genomes]
rs73930386	1.00[AMR][1000 genomes]
rs73930512	1.00[AMR][1000 genomes]
rs73934118	1.00[AMR][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39205800-39242600	Weak transcription	Psoas Muscle	Psoas
2	chr2:39210400-39241600	Strong transcription	Adipose Nuclei	Adipose
3	chr2:39210400-39242600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:39210600-39242400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:39211000-39247600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:39211600-39242000	Weak transcription	Stomach Mucosa	stomach
7	chr2:39213400-39242200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:39213400-39242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:39213400-39251200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:39213400-39259800	Weak transcription	Right Ventricle	heart
11	chr2:39213800-39308000	Weak transcription	Pancreas	Pancrea
12	chr2:39217400-39241800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:39217600-39242400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:39217600-39244200	Strong transcription	Primary B cells from cord blood	blood
15	chr2:39218800-39241200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:39219000-39259200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:39219200-39244000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:39219400-39242600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:39221000-39241200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:39225400-39241800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:39225600-39241600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:39225600-39241600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:39225600-39241600	Strong transcription	Placenta	Placenta
24	chr2:39225800-39241200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:39226200-39241600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:39227600-39303400	Weak transcription	Colonic Mucosa	Colon
27	chr2:39228000-39241200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:39229000-39251400	Weak transcription	Fetal Heart	heart
29	chr2:39229800-39293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:39230200-39243600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:39231200-39241600	Strong transcription	HepG2	liver
32	chr2:39231600-39244400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:39231800-39241600	Strong transcription	Dnd41	blood
34	chr2:39232000-39241200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:39232000-39241800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:39232200-39242800	Strong transcription	Liver	Liver
37	chr2:39232400-39242800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:39232600-39300000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:39234400-39241200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:39234400-39241200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:39235000-39241600	Strong transcription	HSMM	muscle
42	chr2:39235400-39249600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:39235400-39312000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:39235600-39247600	Weak transcription	HSMMtube	muscle
45	chr2:39235600-39251800	Weak transcription	NHEK	skin
46	chr2:39235600-39259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:39235600-39259800	Weak transcription	Spleen	Spleen
48	chr2:39235600-39293200	Weak transcription	Fetal Brain Male	brain
49	chr2:39235600-39295800	Weak transcription	NHLF	lung
50	chr2:39235600-39298200	Weak transcription	Small Intestine	intestine

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